← 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: 12-2690979-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2690979&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CACNA1C",
"hgnc_id": 1390,
"hgvs_c": "c.6446C>T",
"hgvs_p": "p.Ala2149Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_199460.4",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ITFG2-AS1",
"hgnc_id": 53128,
"hgvs_c": "n.51G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000501371.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"gene_symbol": "CACNA1C-AS1",
"hgnc_id": 40119,
"hgvs_c": "n.90G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NR_045725.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 26,
"alphamissense_prediction": null,
"alphamissense_score": 0.7755,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype,Long QT syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07911109179258347,
"computational_source_selected": "CardioboostArm",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 6773,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_000719.7",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399655.6",
"protein_coding": true,
"protein_id": "NP_000710.5",
"strand": true,
"transcript": "NM_000719.7",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 6773,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001167623.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000399603.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161095.1",
"strand": true,
"transcript": "NM_001167623.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 6773,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399603.6",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001167623.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382512.1",
"strand": true,
"transcript": "ENST00000399603.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 6773,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399655.6",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000719.7",
"protein_coding": true,
"protein_id": "ENSP00000382563.1",
"strand": true,
"transcript": "ENST00000399655.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2251,
"aa_ref": "A",
"aa_start": 2179,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7047,
"cdna_start": 6827,
"cds_end": null,
"cds_length": 6756,
"cds_start": 6536,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000682544.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6536C>T",
"hgvs_p": "p.Ala2179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507184.1",
"strand": true,
"transcript": "ENST00000682544.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2209,
"aa_ref": "A",
"aa_start": 2137,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8166,
"cdna_start": 6986,
"cds_end": null,
"cds_length": 6630,
"cds_start": 6410,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000406454.8",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6410C>T",
"hgvs_p": "p.Ala2137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385896.3",
"strand": true,
"transcript": "ENST00000406454.8",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2198,
"aa_ref": "A",
"aa_start": 2126,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8133,
"cdna_start": 6953,
"cds_end": null,
"cds_length": 6597,
"cds_start": 6377,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399634.6",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6377C>T",
"hgvs_p": "p.Ala2126Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382542.2",
"strand": true,
"transcript": "ENST00000399634.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2193,
"aa_ref": "A",
"aa_start": 2121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6582,
"cdna_start": 6362,
"cds_end": null,
"cds_length": 6582,
"cds_start": 6362,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000683824.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6362C>T",
"hgvs_p": "p.Ala2121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507867.1",
"strand": true,
"transcript": "ENST00000683824.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2186,
"aa_ref": "A",
"aa_start": 2114,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13888,
"cdna_start": 6917,
"cds_end": null,
"cds_length": 6561,
"cds_start": 6341,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000347598.9",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6341C>T",
"hgvs_p": "p.Ala2114Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000266376.6",
"strand": true,
"transcript": "ENST00000347598.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "A",
"aa_start": 2107,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6634,
"cdna_start": 6320,
"cds_end": null,
"cds_length": 6540,
"cds_start": 6320,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000344100.7",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6320C>T",
"hgvs_p": "p.Ala2107Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341092.3",
"strand": true,
"transcript": "ENST00000344100.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2173,
"aa_ref": "A",
"aa_start": 2101,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13849,
"cdna_start": 6878,
"cds_end": null,
"cds_length": 6522,
"cds_start": 6302,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000327702.12",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6302C>T",
"hgvs_p": "p.Ala2101Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000329877.7",
"strand": true,
"transcript": "ENST00000327702.12",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2173,
"aa_ref": "A",
"aa_start": 2101,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7719,
"cdna_start": 6539,
"cds_end": null,
"cds_length": 6522,
"cds_start": 6302,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000399617.6",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6302C>T",
"hgvs_p": "p.Ala2101Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382526.1",
"strand": true,
"transcript": "ENST00000399617.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "A",
"aa_start": 2096,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7059,
"cdna_start": 6475,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6287,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000682462.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6287C>T",
"hgvs_p": "p.Ala2096Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507105.1",
"strand": true,
"transcript": "ENST00000682462.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "A",
"aa_start": 2096,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6750,
"cdna_start": 6475,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6287,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000683781.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6287C>T",
"hgvs_p": "p.Ala2096Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507434.1",
"strand": true,
"transcript": "ENST00000683781.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "A",
"aa_start": 2096,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6553,
"cdna_start": 6303,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6287,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000683840.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6287C>T",
"hgvs_p": "p.Ala2096Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507612.1",
"strand": true,
"transcript": "ENST00000683840.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "A",
"aa_start": 2096,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6553,
"cdna_start": 6303,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6287,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000683956.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6287C>T",
"hgvs_p": "p.Ala2096Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506882.1",
"strand": true,
"transcript": "ENST00000683956.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "A",
"aa_start": 2094,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6595,
"cdna_start": 6281,
"cds_end": null,
"cds_length": 6501,
"cds_start": 6281,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000399638.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6281C>T",
"hgvs_p": "p.Ala2094Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382547.1",
"strand": true,
"transcript": "ENST00000399638.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2163,
"aa_ref": "A",
"aa_start": 2091,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7411,
"cdna_start": 6827,
"cds_end": null,
"cds_length": 6492,
"cds_start": 6272,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000335762.10",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6272C>T",
"hgvs_p": "p.Ala2091Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000336982.5",
"strand": true,
"transcript": "ENST00000335762.10",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2158,
"aa_ref": "A",
"aa_start": 2086,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6571,
"cdna_start": 6257,
"cds_end": null,
"cds_length": 6477,
"cds_start": 6257,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000399606.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6257C>T",
"hgvs_p": "p.Ala2086Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382515.1",
"strand": true,
"transcript": "ENST00000399606.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2157,
"aa_ref": "A",
"aa_start": 2085,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6568,
"cdna_start": 6254,
"cds_end": null,
"cds_length": 6474,
"cds_start": 6254,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399621.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6254C>T",
"hgvs_p": "p.Ala2085Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382530.1",
"strand": true,
"transcript": "ENST00000399621.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2157,
"aa_ref": "A",
"aa_start": 2085,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6568,
"cdna_start": 6254,
"cds_end": null,
"cds_length": 6474,
"cds_start": 6254,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399637.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6254C>T",
"hgvs_p": "p.Ala2085Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382546.1",
"strand": true,
"transcript": "ENST00000399637.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2157,
"aa_ref": "A",
"aa_start": 2085,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6568,
"cdna_start": 6254,
"cds_end": null,
"cds_length": 6474,
"cds_start": 6254,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000402845.7",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6254C>T",
"hgvs_p": "p.Ala2085Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385724.3",
"strand": true,
"transcript": "ENST00000402845.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2155,
"aa_ref": "A",
"aa_start": 2083,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6562,
"cdna_start": 6248,
"cds_end": null,
"cds_length": 6468,
"cds_start": 6248,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399629.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6248C>T",
"hgvs_p": "p.Ala2083Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382537.1",
"strand": true,
"transcript": "ENST00000399629.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2152,
"aa_ref": "A",
"aa_start": 2080,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6459,
"cdna_start": 6239,
"cds_end": null,
"cds_length": 6459,
"cds_start": 6239,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000682336.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6239C>T",
"hgvs_p": "p.Ala2080Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507898.1",
"strand": true,
"transcript": "ENST00000682336.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2146,
"aa_ref": "A",
"aa_start": 2074,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6535,
"cdna_start": 6221,
"cds_end": null,
"cds_length": 6441,
"cds_start": 6221,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000399591.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6221C>T",
"hgvs_p": "p.Ala2074Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382500.1",
"strand": true,
"transcript": "ENST00000399591.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2146,
"aa_ref": "A",
"aa_start": 2074,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6535,
"cdna_start": 6221,
"cds_end": null,
"cds_length": 6441,
"cds_start": 6221,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000399595.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6221C>T",
"hgvs_p": "p.Ala2074Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382504.1",
"strand": true,
"transcript": "ENST00000399595.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2144,
"aa_ref": "A",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6529,
"cdna_start": 6215,
"cds_end": null,
"cds_length": 6435,
"cds_start": 6215,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000399649.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6215C>T",
"hgvs_p": "p.Ala2072Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382557.1",
"strand": true,
"transcript": "ENST00000399649.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6511,
"cdna_start": 6197,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399597.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382506.1",
"strand": true,
"transcript": "ENST00000399597.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6511,
"cdna_start": 6197,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399601.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382510.1",
"strand": true,
"transcript": "ENST00000399601.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 6773,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399641.6",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382549.1",
"strand": true,
"transcript": "ENST00000399641.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6511,
"cdna_start": 6197,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000399644.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382552.1",
"strand": true,
"transcript": "ENST00000399644.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8541,
"cdna_start": 6744,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000682835.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507282.1",
"strand": true,
"transcript": "ENST00000682835.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2135,
"aa_ref": "A",
"aa_start": 2063,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6889,
"cdna_start": 6316,
"cds_end": null,
"cds_length": 6408,
"cds_start": 6188,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000683482.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6188C>T",
"hgvs_p": "p.Ala2063Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507169.1",
"strand": true,
"transcript": "ENST00000683482.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2127,
"aa_ref": "A",
"aa_start": 2055,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6478,
"cdna_start": 6164,
"cds_end": null,
"cds_length": 6384,
"cds_start": 6164,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000682686.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6164C>T",
"hgvs_p": "p.Ala2055Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507309.1",
"strand": true,
"transcript": "ENST00000682686.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2221,
"aa_ref": "A",
"aa_start": 2149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13993,
"cdna_start": 7022,
"cds_end": null,
"cds_length": 6666,
"cds_start": 6446,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "NM_199460.4",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6446C>T",
"hgvs_p": "p.Ala2149Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955630.3",
"strand": true,
"transcript": "NM_199460.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2198,
"aa_ref": "A",
"aa_start": 2126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13924,
"cdna_start": 6953,
"cds_end": null,
"cds_length": 6597,
"cds_start": 6377,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001167625.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6377C>T",
"hgvs_p": "p.Ala2126Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161097.1",
"strand": true,
"transcript": "NM_001167625.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2186,
"aa_ref": "A",
"aa_start": 2114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13888,
"cdna_start": 6917,
"cds_end": null,
"cds_length": 6561,
"cds_start": 6341,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001129827.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6341C>T",
"hgvs_p": "p.Ala2114Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123299.1",
"strand": true,
"transcript": "NM_001129827.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "A",
"aa_start": 2107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13867,
"cdna_start": 6896,
"cds_end": null,
"cds_length": 6540,
"cds_start": 6320,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001129829.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6320C>T",
"hgvs_p": "p.Ala2107Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123301.1",
"strand": true,
"transcript": "NM_001129829.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2173,
"aa_ref": "A",
"aa_start": 2101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13849,
"cdna_start": 6878,
"cds_end": null,
"cds_length": 6522,
"cds_start": 6302,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "NM_001129830.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6302C>T",
"hgvs_p": "p.Ala2101Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123302.2",
"strand": true,
"transcript": "NM_001129830.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2173,
"aa_ref": "A",
"aa_start": 2101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13849,
"cdna_start": 6878,
"cds_end": null,
"cds_length": 6522,
"cds_start": 6302,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "NM_001167624.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6302C>T",
"hgvs_p": "p.Ala2101Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161096.2",
"strand": true,
"transcript": "NM_001167624.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "A",
"aa_start": 2094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13828,
"cdna_start": 6857,
"cds_end": null,
"cds_length": 6501,
"cds_start": 6281,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "NM_001129831.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6281C>T",
"hgvs_p": "p.Ala2094Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123303.1",
"strand": true,
"transcript": "NM_001129831.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2158,
"aa_ref": "A",
"aa_start": 2086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13804,
"cdna_start": 6833,
"cds_end": null,
"cds_length": 6477,
"cds_start": 6257,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "NM_001129832.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6257C>T",
"hgvs_p": "p.Ala2086Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123304.1",
"strand": true,
"transcript": "NM_001129832.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2157,
"aa_ref": "A",
"aa_start": 2085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13801,
"cdna_start": 6830,
"cds_end": null,
"cds_length": 6474,
"cds_start": 6254,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001129833.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6254C>T",
"hgvs_p": "p.Ala2085Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123305.1",
"strand": true,
"transcript": "NM_001129833.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2157,
"aa_ref": "A",
"aa_start": 2085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13801,
"cdna_start": 6830,
"cds_end": null,
"cds_length": 6474,
"cds_start": 6254,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001129834.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6254C>T",
"hgvs_p": "p.Ala2085Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123306.1",
"strand": true,
"transcript": "NM_001129834.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2157,
"aa_ref": "A",
"aa_start": 2085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13801,
"cdna_start": 6830,
"cds_end": null,
"cds_length": 6474,
"cds_start": 6254,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001129835.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6254C>T",
"hgvs_p": "p.Ala2085Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123307.1",
"strand": true,
"transcript": "NM_001129835.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2155,
"aa_ref": "A",
"aa_start": 2083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13795,
"cdna_start": 6824,
"cds_end": null,
"cds_length": 6468,
"cds_start": 6248,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001129836.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6248C>T",
"hgvs_p": "p.Ala2083Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123308.1",
"strand": true,
"transcript": "NM_001129836.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2146,
"aa_ref": "A",
"aa_start": 2074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13768,
"cdna_start": 6797,
"cds_end": null,
"cds_length": 6441,
"cds_start": 6221,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001129837.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6221C>T",
"hgvs_p": "p.Ala2074Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123309.1",
"strand": true,
"transcript": "NM_001129837.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2146,
"aa_ref": "A",
"aa_start": 2074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13768,
"cdna_start": 6797,
"cds_end": null,
"cds_length": 6441,
"cds_start": 6221,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001129838.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6221C>T",
"hgvs_p": "p.Ala2074Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123310.1",
"strand": true,
"transcript": "NM_001129838.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2144,
"aa_ref": "A",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13762,
"cdna_start": 6791,
"cds_end": null,
"cds_length": 6435,
"cds_start": 6215,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001129839.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6215C>T",
"hgvs_p": "p.Ala2072Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123311.1",
"strand": true,
"transcript": "NM_001129839.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 6773,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001129840.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123312.1",
"strand": true,
"transcript": "NM_001129840.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 6773,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001129841.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123313.1",
"strand": true,
"transcript": "NM_001129841.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 6773,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001129842.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123314.1",
"strand": true,
"transcript": "NM_001129842.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "A",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 6773,
"cds_end": null,
"cds_length": 6417,
"cds_start": 6197,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001129843.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6197C>T",
"hgvs_p": "p.Ala2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123315.1",
"strand": true,
"transcript": "NM_001129843.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2135,
"aa_ref": "A",
"aa_start": 2063,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13735,
"cdna_start": 6764,
"cds_end": null,
"cds_length": 6408,
"cds_start": 6188,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001129844.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6188C>T",
"hgvs_p": "p.Ala2063Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123316.1",
"strand": true,
"transcript": "NM_001129844.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2127,
"aa_ref": "A",
"aa_start": 2055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13711,
"cdna_start": 6740,
"cds_end": null,
"cds_length": 6384,
"cds_start": 6164,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001129846.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6164C>T",
"hgvs_p": "p.Ala2055Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123318.1",
"strand": true,
"transcript": "NM_001129846.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2412,
"aa_ref": "A",
"aa_start": 2340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14273,
"cdna_start": 7302,
"cds_end": null,
"cds_length": 7239,
"cds_start": 7019,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "XM_017019926.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.7019C>T",
"hgvs_p": "p.Ala2340Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875415.1",
"strand": true,
"transcript": "XM_017019926.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2377,
"aa_ref": "A",
"aa_start": 2305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14168,
"cdna_start": 7197,
"cds_end": null,
"cds_length": 7134,
"cds_start": 6914,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "XM_017019927.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6914C>T",
"hgvs_p": "p.Ala2305Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875416.1",
"strand": true,
"transcript": "XM_017019927.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "A",
"aa_start": 2286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14111,
"cdna_start": 7140,
"cds_end": null,
"cds_length": 7077,
"cds_start": 6857,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "XM_047429513.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6857C>T",
"hgvs_p": "p.Ala2286Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285469.1",
"strand": true,
"transcript": "XM_047429513.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2306,
"aa_ref": "A",
"aa_start": 2234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13955,
"cdna_start": 6984,
"cds_end": null,
"cds_length": 6921,
"cds_start": 6701,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "XM_017019928.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6701C>T",
"hgvs_p": "p.Ala2234Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875417.1",
"strand": true,
"transcript": "XM_017019928.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2287,
"aa_ref": "A",
"aa_start": 2215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13898,
"cdna_start": 6927,
"cds_end": null,
"cds_length": 6864,
"cds_start": 6644,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "XM_017019929.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6644C>T",
"hgvs_p": "p.Ala2215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875418.1",
"strand": true,
"transcript": "XM_017019929.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2287,
"aa_ref": "A",
"aa_start": 2215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13898,
"cdna_start": 6927,
"cds_end": null,
"cds_length": 6864,
"cds_start": 6644,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "XM_017019930.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6644C>T",
"hgvs_p": "p.Ala2215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875419.1",
"strand": true,
"transcript": "XM_017019930.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2285,
"aa_ref": "A",
"aa_start": 2213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13892,
"cdna_start": 6921,
"cds_end": null,
"cds_length": 6858,
"cds_start": 6638,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "XM_047429514.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6638C>T",
"hgvs_p": "p.Ala2213Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285470.1",
"strand": true,
"transcript": "XM_047429514.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2259,
"aa_ref": "A",
"aa_start": 2187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13814,
"cdna_start": 6843,
"cds_end": null,
"cds_length": 6780,
"cds_start": 6560,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_017019931.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6560C>T",
"hgvs_p": "p.Ala2187Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875420.1",
"strand": true,
"transcript": "XM_017019931.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2259,
"aa_ref": "A",
"aa_start": 2187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13814,
"cdna_start": 6843,
"cds_end": null,
"cds_length": 6780,
"cds_start": 6560,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_047429515.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6560C>T",
"hgvs_p": "p.Ala2187Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285471.1",
"strand": true,
"transcript": "XM_047429515.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2259,
"aa_ref": "A",
"aa_start": 2187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13814,
"cdna_start": 6843,
"cds_end": null,
"cds_length": 6780,
"cds_start": 6560,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_047429516.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6560C>T",
"hgvs_p": "p.Ala2187Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285472.1",
"strand": true,
"transcript": "XM_047429516.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2254,
"aa_ref": "A",
"aa_start": 2182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13799,
"cdna_start": 6828,
"cds_end": null,
"cds_length": 6765,
"cds_start": 6545,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017019932.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6545C>T",
"hgvs_p": "p.Ala2182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875421.1",
"strand": true,
"transcript": "XM_017019932.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2248,
"aa_ref": "A",
"aa_start": 2176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13781,
"cdna_start": 6810,
"cds_end": null,
"cds_length": 6747,
"cds_start": 6527,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_047429517.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6527C>T",
"hgvs_p": "p.Ala2176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285473.1",
"strand": true,
"transcript": "XM_047429517.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2248,
"aa_ref": "A",
"aa_start": 2176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13781,
"cdna_start": 6810,
"cds_end": null,
"cds_length": 6747,
"cds_start": 6527,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_047429518.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6527C>T",
"hgvs_p": "p.Ala2176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285474.1",
"strand": true,
"transcript": "XM_047429518.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2222,
"aa_ref": "A",
"aa_start": 2150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13703,
"cdna_start": 6732,
"cds_end": null,
"cds_length": 6669,
"cds_start": 6449,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017019933.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6449C>T",
"hgvs_p": "p.Ala2150Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875422.1",
"strand": true,
"transcript": "XM_017019933.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2219,
"aa_ref": "A",
"aa_start": 2147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13694,
"cdna_start": 6723,
"cds_end": null,
"cds_length": 6660,
"cds_start": 6440,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017019934.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6440C>T",
"hgvs_p": "p.Ala2147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875423.1",
"strand": true,
"transcript": "XM_017019934.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2219,
"aa_ref": "A",
"aa_start": 2147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13694,
"cdna_start": 6723,
"cds_end": null,
"cds_length": 6660,
"cds_start": 6440,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017019935.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6440C>T",
"hgvs_p": "p.Ala2147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875424.1",
"strand": true,
"transcript": "XM_017019935.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2219,
"aa_ref": "A",
"aa_start": 2147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13694,
"cdna_start": 6723,
"cds_end": null,
"cds_length": 6660,
"cds_start": 6440,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017019955.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6440C>T",
"hgvs_p": "p.Ala2147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875444.1",
"strand": true,
"transcript": "XM_017019955.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2219,
"aa_ref": "A",
"aa_start": 2147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13694,
"cdna_start": 6723,
"cds_end": null,
"cds_length": 6660,
"cds_start": 6440,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_047429519.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6440C>T",
"hgvs_p": "p.Ala2147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285475.1",
"strand": true,
"transcript": "XM_047429519.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2211,
"aa_ref": "A",
"aa_start": 2139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13670,
"cdna_start": 6699,
"cds_end": null,
"cds_length": 6636,
"cds_start": 6416,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017019939.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6416C>T",
"hgvs_p": "p.Ala2139Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875428.1",
"strand": true,
"transcript": "XM_017019939.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2194,
"aa_ref": "A",
"aa_start": 2122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13619,
"cdna_start": 6648,
"cds_end": null,
"cds_length": 6585,
"cds_start": 6365,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017019943.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6365C>T",
"hgvs_p": "p.Ala2122Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875432.1",
"strand": true,
"transcript": "XM_017019943.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2194,
"aa_ref": "A",
"aa_start": 2122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13619,
"cdna_start": 6648,
"cds_end": null,
"cds_length": 6585,
"cds_start": 6365,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017019944.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6365C>T",
"hgvs_p": "p.Ala2122Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875433.1",
"strand": true,
"transcript": "XM_017019944.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2194,
"aa_ref": "A",
"aa_start": 2122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13619,
"cdna_start": 6648,
"cds_end": null,
"cds_length": 6585,
"cds_start": 6365,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017019945.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6365C>T",
"hgvs_p": "p.Ala2122Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875434.1",
"strand": true,
"transcript": "XM_017019945.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2194,
"aa_ref": "A",
"aa_start": 2122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13619,
"cdna_start": 6648,
"cds_end": null,
"cds_length": 6585,
"cds_start": 6365,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017019946.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6365C>T",
"hgvs_p": "p.Ala2122Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875435.1",
"strand": true,
"transcript": "XM_017019946.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2194,
"aa_ref": "A",
"aa_start": 2122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13619,
"cdna_start": 6648,
"cds_end": null,
"cds_length": 6585,
"cds_start": 6365,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017019947.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6365C>T",
"hgvs_p": "p.Ala2122Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875436.1",
"strand": true,
"transcript": "XM_017019947.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2194,
"aa_ref": "A",
"aa_start": 2122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13619,
"cdna_start": 6648,
"cds_end": null,
"cds_length": 6585,
"cds_start": 6365,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017019948.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6365C>T",
"hgvs_p": "p.Ala2122Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875437.1",
"strand": true,
"transcript": "XM_017019948.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2194,
"aa_ref": "A",
"aa_start": 2122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13619,
"cdna_start": 6648,
"cds_end": null,
"cds_length": 6585,
"cds_start": 6365,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017019949.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6365C>T",
"hgvs_p": "p.Ala2122Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875438.1",
"strand": true,
"transcript": "XM_017019949.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2193,
"aa_ref": "A",
"aa_start": 2121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13616,
"cdna_start": 6645,
"cds_end": null,
"cds_length": 6582,
"cds_start": 6362,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_011521020.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6362C>T",
"hgvs_p": "p.Ala2121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519322.1",
"strand": true,
"transcript": "XM_011521020.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2192,
"aa_ref": "A",
"aa_start": 2120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13613,
"cdna_start": 6642,
"cds_end": null,
"cds_length": 6579,
"cds_start": 6359,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017019950.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6359C>T",
"hgvs_p": "p.Ala2120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875439.1",
"strand": true,
"transcript": "XM_017019950.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "A",
"aa_start": 2096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13541,
"cdna_start": 6570,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6287,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_006719017.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6287C>T",
"hgvs_p": "p.Ala2096Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719080.1",
"strand": true,
"transcript": "XM_006719017.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "A",
"aa_start": 2096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13541,
"cdna_start": 6570,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6287,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_017019953.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6287C>T",
"hgvs_p": "p.Ala2096Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875442.1",
"strand": true,
"transcript": "XM_017019953.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "A",
"aa_start": 2096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13541,
"cdna_start": 6570,
"cds_end": null,
"cds_length": 6507,
"cds_start": 6287,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_017019954.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6287C>T",
"hgvs_p": "p.Ala2096Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875443.1",
"strand": true,
"transcript": "XM_017019954.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2163,
"aa_ref": "A",
"aa_start": 2091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13819,
"cdna_start": 6848,
"cds_end": null,
"cds_length": 6492,
"cds_start": 6272,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_011521023.4",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.6272C>T",
"hgvs_p": "p.Ala2091Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519325.1",
"strand": true,
"transcript": "XM_011521023.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1859,
"aa_ref": "A",
"aa_start": 1787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14885,
"cdna_start": 7914,
"cds_end": null,
"cds_length": 5580,
"cds_start": 5360,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_047429520.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.5360C>T",
"hgvs_p": "p.Ala1787Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285476.1",
"strand": true,
"transcript": "XM_047429520.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000501371.5",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.51G>A",
"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": "ENST00000501371.5",
"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": 575,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000541673.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.90G>A",
"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": "ENST00000541673.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000544517.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.222G>A",
"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": "ENST00000544517.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000616390.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "n.2545C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000616390.1",
"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": 3016,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000684467.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "n.2700C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000684467.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000715730.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.419G>A",
"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": "ENST00000715730.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000839357.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.191G>A",
"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": "ENST00000839357.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 906,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000839358.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.99G>A",
"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": "ENST00000839358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_045725.1",
"gene_hgnc_id": 40119,
"gene_symbol": "CACNA1C-AS1",
"hgvs_c": "n.90G>A",
"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": "NR_045725.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545526.2",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.904-18733G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000545526.2",
"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": 1053,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000715729.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.422+15273G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000715729.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000839340.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.430-13082G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000839340.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 834,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000839341.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.203-18733G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000839341.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 367,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000839342.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.292-8367G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000839342.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 498,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000839343.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.409-8367G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000839343.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 820,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000839348.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.193-18733G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000839348.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 724,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000839359.1",
"gene_hgnc_id": 53128,
"gene_symbol": "ITFG2-AS1",
"hgvs_c": "n.92+90G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000839359.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1216146146",
"effect": "missense_variant",
"frequency_reference_population": 0.000016253149,
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"gnomad_exomes_ac": 25,
"gnomad_exomes_af": 0.0000172715,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656935,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Long QT syndrome|not provided|Cardiovascular phenotype",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.814,
"pos": 2690979,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.387,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_199460.4"
}
]
}