← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 18-55261512-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55261512&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP5",
"BS2",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCF4",
"hgnc_id": 11634,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001243226.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP5,BS2,BA1",
"acmg_score": -13,
"allele_count_reference_population": 1566,
"alphamissense_prediction": null,
"alphamissense_score": 0.1044,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "18",
"clinvar_classification": "Benign",
"clinvar_disease": "Inborn genetic diseases,Pitt-Hopkins syndrome,TCF4-related disorder,not provided,not specified",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:5 B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07375624775886536,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8041,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2016,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001083962.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354452.8",
"protein_coding": true,
"protein_id": "NP_001077431.1",
"strand": false,
"transcript": "NM_001083962.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8041,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2016,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000354452.8",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001083962.2",
"protein_coding": true,
"protein_id": "ENSP00000346440.3",
"strand": false,
"transcript": "ENST00000354452.8",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 773,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000398339.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381382.1",
"strand": false,
"transcript": "ENST00000398339.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 667,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8317,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 2004,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000356073.8",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348374.4",
"strand": false,
"transcript": "ENST00000356073.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "A",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1995,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000566286.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ala313Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455418.2",
"strand": false,
"transcript": "ENST00000566286.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1878,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000543082.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ala273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439656.1",
"strand": false,
"transcript": "ENST00000543082.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 607,
"aa_ref": "A",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1824,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000567880.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Ala255Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454366.1",
"strand": false,
"transcript": "ENST00000567880.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1791,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000564228.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455261.1",
"strand": false,
"transcript": "ENST00000564228.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1536,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000457482.7",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409447.2",
"strand": false,
"transcript": "ENST00000457482.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1524,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000561831.7",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457765.1",
"strand": false,
"transcript": "ENST00000561831.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1524,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000570287.6",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455763.1",
"strand": false,
"transcript": "ENST00000570287.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5733,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000562680.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.1035C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000562680.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 773,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8232,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001243226.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230155.2",
"strand": false,
"transcript": "NM_001243226.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 697,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 2094,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000936496.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606555.1",
"strand": false,
"transcript": "ENST00000936496.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 680,
"aa_ref": "A",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7946,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 2043,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000638154.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490625.2",
"strand": false,
"transcript": "ENST00000638154.3",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 677,
"aa_ref": "A",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8419,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 2034,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001243228.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230157.1",
"strand": false,
"transcript": "NM_001243228.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 677,
"aa_ref": "A",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 2034,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000564403.6",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457263.1",
"strand": false,
"transcript": "ENST00000564403.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8401,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 2016,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001369567.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356496.1",
"strand": false,
"transcript": "NM_001369567.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8034,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 2016,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001369568.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356497.1",
"strand": false,
"transcript": "NM_001369568.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 2016,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000629387.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486670.1",
"strand": false,
"transcript": "ENST00000629387.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 2016,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856120.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526179.1",
"strand": false,
"transcript": "ENST00000856120.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 2016,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856121.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526180.1",
"strand": false,
"transcript": "ENST00000856121.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4654,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 2016,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000936493.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606552.1",
"strand": false,
"transcript": "ENST00000936493.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 2016,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000936497.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606556.1",
"strand": false,
"transcript": "ENST00000936497.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 670,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8038,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2013,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001330604.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317533.1",
"strand": false,
"transcript": "NM_001330604.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 670,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8031,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 2013,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001369569.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ala314Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356498.1",
"strand": false,
"transcript": "NM_001369569.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 670,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8038,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 2013,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001369570.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ala314Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356499.1",
"strand": false,
"transcript": "NM_001369570.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 670,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 2013,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856117.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526176.1",
"strand": false,
"transcript": "ENST00000856117.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 670,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2013,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856119.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526178.1",
"strand": false,
"transcript": "ENST00000856119.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 669,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 2010,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856116.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ala314Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526175.1",
"strand": false,
"transcript": "ENST00000856116.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 667,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8389,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 2004,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001369571.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356500.1",
"strand": false,
"transcript": "NM_001369571.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 667,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8022,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 2004,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001369572.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356501.1",
"strand": false,
"transcript": "NM_001369572.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 667,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8029,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2004,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_003199.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003190.1",
"strand": false,
"transcript": "NM_003199.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 667,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 2004,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000564999.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457649.1",
"strand": false,
"transcript": "ENST00000564999.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 667,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 2004,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856114.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526173.1",
"strand": false,
"transcript": "ENST00000856114.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 667,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 2004,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000936494.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606553.1",
"strand": false,
"transcript": "ENST00000936494.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 667,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 2004,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000941604.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611663.1",
"strand": false,
"transcript": "ENST00000941604.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 667,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 2004,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000941605.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611664.1",
"strand": false,
"transcript": "ENST00000941605.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 666,
"aa_ref": "A",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8026,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 2001,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001369573.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ala314Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356502.1",
"strand": false,
"transcript": "NM_001369573.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 666,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8026,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2001,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001369574.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356503.1",
"strand": false,
"transcript": "NM_001369574.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 666,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 2001,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856115.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526174.1",
"strand": false,
"transcript": "ENST00000856115.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 666,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 2001,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856118.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526177.1",
"strand": false,
"transcript": "ENST00000856118.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 666,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 2001,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000936498.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606557.1",
"strand": false,
"transcript": "ENST00000936498.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "A",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7927,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1995,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001243230.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ala313Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230159.1",
"strand": false,
"transcript": "NM_001243230.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8312,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1947,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369586.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356515.1",
"strand": false,
"transcript": "NM_001369586.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8309,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1944,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001243227.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230156.1",
"strand": false,
"transcript": "NM_001243227.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7957,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 1944,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001348217.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335146.1",
"strand": false,
"transcript": "NM_001348217.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7944,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1944,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001348218.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335147.1",
"strand": false,
"transcript": "NM_001348218.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7949,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1944,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369575.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356504.1",
"strand": false,
"transcript": "NM_001369575.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1944,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000537578.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440731.1",
"strand": false,
"transcript": "ENST00000537578.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1944,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000568673.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455135.1",
"strand": false,
"transcript": "ENST00000568673.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8343,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 1944,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636400.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490006.1",
"strand": false,
"transcript": "ENST00000636400.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8306,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1941,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369576.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356505.1",
"strand": false,
"transcript": "NM_001369576.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8306,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1941,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369577.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356506.1",
"strand": false,
"transcript": "NM_001369577.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7946,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1941,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369578.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356507.1",
"strand": false,
"transcript": "NM_001369578.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7946,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1941,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369579.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356508.1",
"strand": false,
"transcript": "NM_001369579.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7941,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1941,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369580.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356509.1",
"strand": false,
"transcript": "NM_001369580.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7941,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1941,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369581.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356510.1",
"strand": false,
"transcript": "NM_001369581.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1941,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000936495.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606554.1",
"strand": false,
"transcript": "ENST00000936495.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 643,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7945,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 1932,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001306207.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293136.1",
"strand": false,
"transcript": "NM_001306207.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 643,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7932,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1932,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001348219.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335148.1",
"strand": false,
"transcript": "NM_001348219.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 643,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8297,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1932,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369582.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356511.1",
"strand": false,
"transcript": "NM_001369582.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 643,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7937,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1932,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369583.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356512.1",
"strand": false,
"transcript": "NM_001369583.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 643,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1932,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000540999.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445202.1",
"strand": false,
"transcript": "ENST00000540999.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 642,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7942,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1929,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001348220.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335149.1",
"strand": false,
"transcript": "NM_001348220.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 642,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8294,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1929,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369584.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356513.1",
"strand": false,
"transcript": "NM_001369584.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 642,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7934,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1929,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001369585.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356514.1",
"strand": false,
"transcript": "NM_001369585.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 642,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1929,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000568740.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455346.1",
"strand": false,
"transcript": "ENST00000568740.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 631,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7805,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1896,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000635822.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490451.1",
"strand": false,
"transcript": "ENST00000635822.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 629,
"aa_ref": "A",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7915,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1890,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001348211.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ala273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335140.1",
"strand": false,
"transcript": "NM_001348211.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7903,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1878,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001243231.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ala273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230160.1",
"strand": false,
"transcript": "NM_001243231.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1836,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000566279.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Ala255Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456125.1",
"strand": false,
"transcript": "ENST00000566279.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 600,
"aa_ref": "A",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7788,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1803,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001243232.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230161.1",
"strand": false,
"transcript": "NM_001243232.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 600,
"aa_ref": "A",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1803,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000544241.6",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441562.2",
"strand": false,
"transcript": "ENST00000544241.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7776,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1791,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001306208.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293137.1",
"strand": false,
"transcript": "NM_001306208.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 583,
"aa_ref": "A",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1752,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000565018.6",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Ala231Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455984.2",
"strand": false,
"transcript": "ENST00000565018.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 583,
"aa_ref": "A",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8140,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1752,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000616053.4",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Ala231Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478549.1",
"strand": false,
"transcript": "ENST00000616053.4",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7606,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1626,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001330605.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317534.1",
"strand": false,
"transcript": "NM_001330605.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7668,
"cdna_start": 746,
"cds_end": null,
"cds_length": 1626,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001348213.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335142.1",
"strand": false,
"transcript": "NM_001348213.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7640,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1626,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000636822.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490883.1",
"strand": false,
"transcript": "ENST00000636822.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7577,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1626,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643689.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494380.1",
"strand": false,
"transcript": "ENST00000643689.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1626,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675707.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501758.1",
"strand": false,
"transcript": "ENST00000675707.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 537,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7668,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1614,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001243233.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230162.1",
"strand": false,
"transcript": "NM_001243233.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 537,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7653,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1614,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001348212.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335141.1",
"strand": false,
"transcript": "NM_001348212.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 537,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 750,
"cds_end": null,
"cds_length": 1614,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000537856.7",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439827.2",
"strand": false,
"transcript": "ENST00000537856.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 537,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1614,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000561992.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455179.1",
"strand": false,
"transcript": "ENST00000561992.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 537,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1614,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000570177.6",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454647.1",
"strand": false,
"transcript": "ENST00000570177.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7489,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1536,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001243234.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230163.1",
"strand": false,
"transcript": "NM_001243234.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7562,
"cdna_start": 640,
"cds_end": null,
"cds_length": 1536,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001348216.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335145.1",
"strand": false,
"transcript": "NM_001348216.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7477,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1524,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001243235.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230164.1",
"strand": false,
"transcript": "NM_001243235.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7550,
"cdna_start": 640,
"cds_end": null,
"cds_length": 1524,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001243236.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230165.1",
"strand": false,
"transcript": "NM_001243236.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 506,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7474,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1521,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001348214.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335143.1",
"strand": false,
"transcript": "NM_001348214.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 455,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7422,
"cdna_start": 500,
"cds_end": null,
"cds_length": 1368,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001348215.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Ala99Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335144.1",
"strand": false,
"transcript": "NM_001348215.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 455,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7553,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1368,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000637169.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Ala99Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490832.1",
"strand": false,
"transcript": "ENST00000637169.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 451,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1701,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1356,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000626584.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Ala99Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486072.1",
"strand": false,
"transcript": "ENST00000626584.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 314,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 945,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000630720.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487218.1",
"strand": false,
"transcript": "ENST00000630720.3",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 235,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 807,
"cdna_start": 652,
"cds_end": null,
"cds_length": 709,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000629343.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486148.1",
"strand": false,
"transcript": "ENST00000629343.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 223,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 826,
"cdna_start": 706,
"cds_end": null,
"cds_length": 674,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000628636.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485755.1",
"strand": false,
"transcript": "ENST00000628636.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 206,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 622,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000628078.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486909.1",
"strand": false,
"transcript": "ENST00000628078.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 165,
"aa_ref": "A",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 661,
"cdna_start": 208,
"cds_end": null,
"cds_length": 498,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000570146.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.206C>T",
"hgvs_p": "p.Ala69Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468729.1",
"strand": false,
"transcript": "ENST00000570146.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 856,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000563760.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.536C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000563760.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 624,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000627136.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.545C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000627136.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 463,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000628360.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.41C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000628360.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 721,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000628689.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.*87C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000487010.1",
"strand": false,
"transcript": "ENST00000628689.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7396,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000635990.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.624C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000635990.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8283,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636751.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.*652C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489783.1",
"strand": false,
"transcript": "ENST00000636751.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000637115.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.*834C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490234.1",
"strand": false,
"transcript": "ENST00000637115.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7771,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000637239.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.1011C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000637239.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7410,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637250.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.638C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000637250.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7314,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000637923.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.*244C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490329.1",
"strand": false,
"transcript": "ENST00000637923.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000674764.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.*555C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502213.1",
"strand": false,
"transcript": "ENST00000674764.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 721,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000628689.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.*87C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000487010.1",
"strand": false,
"transcript": "ENST00000628689.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8283,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636751.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.*652C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489783.1",
"strand": false,
"transcript": "ENST00000636751.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000637115.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.*834C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490234.1",
"strand": false,
"transcript": "ENST00000637115.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7314,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000637923.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.*244C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490329.1",
"strand": false,
"transcript": "ENST00000637923.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000674764.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.*555C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502213.1",
"strand": false,
"transcript": "ENST00000674764.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 178,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": null,
"cds_end": null,
"cds_length": 538,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000562030.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.*16C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456220.2",
"strand": true,
"transcript": "ENST00000562030.3",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs147445499",
"effect": "missense_variant",
"frequency_reference_population": 0.00097030593,
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"gnomad_exomes_ac": 1471,
"gnomad_exomes_af": 0.0010064,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 95,
"gnomad_genomes_af": 0.000623859,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|not provided|Pitt-Hopkins syndrome|Inborn genetic diseases|TCF4-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.264,
"pos": 55261512,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.422,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001243226.3"
}
]
}