← 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: 12-2585860-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2585860&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2585860,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000347598.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_000719.7",
"protein_id": "NP_000710.5",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "ENST00000399655.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001167623.2",
"protein_id": "NP_001161095.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "ENST00000399603.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399603.6",
"protein_id": "ENSP00000382512.1",
"transcript_support_level": 5,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "NM_001167623.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399655.6",
"protein_id": "ENSP00000382563.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "NM_000719.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Asn859Ser",
"transcript": "ENST00000682544.1",
"protein_id": "ENSP00000507184.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 2251,
"cds_start": 2576,
"cds_end": null,
"cds_length": 6756,
"cdna_start": 2867,
"cdna_end": null,
"cdna_length": 7047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000406454.8",
"protein_id": "ENSP00000385896.3",
"transcript_support_level": 5,
"aa_start": 829,
"aa_end": null,
"aa_length": 2209,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6630,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 8166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399634.6",
"protein_id": "ENSP00000382542.2",
"transcript_support_level": 5,
"aa_start": 829,
"aa_end": null,
"aa_length": 2198,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 8133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2651A>G",
"hgvs_p": "p.Asn884Ser",
"transcript": "ENST00000683824.1",
"protein_id": "ENSP00000507867.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 2193,
"cds_start": 2651,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 2651,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000347598.9",
"protein_id": "ENSP00000266376.6",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2186,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000344100.7",
"protein_id": "ENSP00000341092.3",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2179,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000327702.12",
"protein_id": "ENSP00000329877.7",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2173,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399617.6",
"protein_id": "ENSP00000382526.1",
"transcript_support_level": 5,
"aa_start": 829,
"aa_end": null,
"aa_length": 2173,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 2723,
"cdna_end": null,
"cdna_length": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Asn859Ser",
"transcript": "ENST00000682462.1",
"protein_id": "ENSP00000507105.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 2168,
"cds_start": 2576,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 2764,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Asn859Ser",
"transcript": "ENST00000683781.1",
"protein_id": "ENSP00000507434.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 2168,
"cds_start": 2576,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 2764,
"cdna_end": null,
"cdna_length": 6750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Asn859Ser",
"transcript": "ENST00000683840.1",
"protein_id": "ENSP00000507612.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 2168,
"cds_start": 2576,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 2592,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Asn859Ser",
"transcript": "ENST00000683956.1",
"protein_id": "ENSP00000506882.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 2168,
"cds_start": 2576,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 2592,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399638.5",
"protein_id": "ENSP00000382547.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2166,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Asn854Ser",
"transcript": "ENST00000335762.10",
"protein_id": "ENSP00000336982.5",
"transcript_support_level": 5,
"aa_start": 854,
"aa_end": null,
"aa_length": 2163,
"cds_start": 2561,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 3116,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399606.5",
"protein_id": "ENSP00000382515.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2158,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399621.5",
"protein_id": "ENSP00000382530.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2157,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399637.5",
"protein_id": "ENSP00000382546.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2157,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000402845.7",
"protein_id": "ENSP00000385724.3",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2157,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399629.5",
"protein_id": "ENSP00000382537.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2155,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Asn854Ser",
"transcript": "ENST00000682336.1",
"protein_id": "ENSP00000507898.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 2152,
"cds_start": 2561,
"cds_end": null,
"cds_length": 6459,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399591.5",
"protein_id": "ENSP00000382500.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2146,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399595.5",
"protein_id": "ENSP00000382504.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2146,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399649.5",
"protein_id": "ENSP00000382557.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2144,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6435,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399597.5",
"protein_id": "ENSP00000382506.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399601.5",
"protein_id": "ENSP00000382510.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399641.6",
"protein_id": "ENSP00000382549.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000399644.5",
"protein_id": "ENSP00000382552.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000682835.1",
"protein_id": "ENSP00000507282.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2477A>G",
"hgvs_p": "p.Asn826Ser",
"transcript": "ENST00000683482.1",
"protein_id": "ENSP00000507169.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 2135,
"cds_start": 2477,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "ENST00000682686.1",
"protein_id": "ENSP00000507309.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2127,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.*1093A>G",
"hgvs_p": null,
"transcript": "ENST00000480911.6",
"protein_id": "ENSP00000437936.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.*1093A>G",
"hgvs_p": null,
"transcript": "ENST00000480911.6",
"protein_id": "ENSP00000437936.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_199460.4",
"protein_id": "NP_955630.3",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2221,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6666,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001167625.2",
"protein_id": "NP_001161097.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2198,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129827.2",
"protein_id": "NP_001123299.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2186,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129829.2",
"protein_id": "NP_001123301.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2179,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129830.3",
"protein_id": "NP_001123302.2",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2173,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001167624.3",
"protein_id": "NP_001161096.2",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2173,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129831.2",
"protein_id": "NP_001123303.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2166,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129832.2",
"protein_id": "NP_001123304.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2158,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129833.2",
"protein_id": "NP_001123305.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2157,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129834.2",
"protein_id": "NP_001123306.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2157,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129835.2",
"protein_id": "NP_001123307.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2157,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129836.2",
"protein_id": "NP_001123308.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2155,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129837.2",
"protein_id": "NP_001123309.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2146,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129838.2",
"protein_id": "NP_001123310.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2146,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129839.2",
"protein_id": "NP_001123311.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2144,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6435,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129840.2",
"protein_id": "NP_001123312.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129841.2",
"protein_id": "NP_001123313.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129842.2",
"protein_id": "NP_001123314.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129843.2",
"protein_id": "NP_001123315.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2477A>G",
"hgvs_p": "p.Asn826Ser",
"transcript": "NM_001129844.2",
"protein_id": "NP_001123316.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 2135,
"cds_start": 2477,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 3053,
"cdna_end": null,
"cdna_length": 13735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser",
"transcript": "NM_001129846.2",
"protein_id": "NP_001123318.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 2127,
"cds_start": 2486,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 13711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.977A>G",
"hgvs_p": "p.Asn326Ser",
"transcript": "ENST00000465278.3",
"protein_id": "ENSP00000478996.2",
"transcript_support_level": 3,
"aa_start": 326,
"aa_end": null,
"aa_length": 461,
"cds_start": 977,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_017019926.3",
"protein_id": "XP_016875415.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2412,
"cds_start": 2849,
"cds_end": null,
"cds_length": 7239,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 14273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_017019927.3",
"protein_id": "XP_016875416.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2377,
"cds_start": 2849,
"cds_end": null,
"cds_length": 7134,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 14168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_047429513.1",
"protein_id": "XP_047285469.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2358,
"cds_start": 2849,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 14111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_017019928.3",
"protein_id": "XP_016875417.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2306,
"cds_start": 2849,
"cds_end": null,
"cds_length": 6921,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 13955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_017019929.3",
"protein_id": "XP_016875418.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2287,
"cds_start": 2849,
"cds_end": null,
"cds_length": 6864,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 13898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_017019930.3",
"protein_id": "XP_016875419.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2287,
"cds_start": 2849,
"cds_end": null,
"cds_length": 6864,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 13898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_047429514.1",
"protein_id": "XP_047285470.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2285,
"cds_start": 2849,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 13892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_017019931.3",
"protein_id": "XP_016875420.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2259,
"cds_start": 2849,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_047429515.1",
"protein_id": "XP_047285471.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2259,
"cds_start": 2849,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_047429516.1",
"protein_id": "XP_047285472.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2259,
"cds_start": 2849,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019932.3",
"protein_id": "XP_016875421.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2254,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6765,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_047429517.1",
"protein_id": "XP_047285473.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2248,
"cds_start": 2849,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 13781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.Asn950Ser",
"transcript": "XM_047429518.1",
"protein_id": "XP_047285474.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 2248,
"cds_start": 2849,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 13781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019933.3",
"protein_id": "XP_016875422.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2222,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2729A>G",
"hgvs_p": "p.Asn910Ser",
"transcript": "XM_017019934.3",
"protein_id": "XP_016875423.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 2219,
"cds_start": 2729,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2729A>G",
"hgvs_p": "p.Asn910Ser",
"transcript": "XM_017019935.3",
"protein_id": "XP_016875424.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 2219,
"cds_start": 2729,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2729A>G",
"hgvs_p": "p.Asn910Ser",
"transcript": "XM_017019955.3",
"protein_id": "XP_016875444.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 2219,
"cds_start": 2729,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2729A>G",
"hgvs_p": "p.Asn910Ser",
"transcript": "XM_047429519.1",
"protein_id": "XP_047285475.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 2219,
"cds_start": 2729,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019939.3",
"protein_id": "XP_016875428.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2211,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019943.3",
"protein_id": "XP_016875432.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2194,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019944.3",
"protein_id": "XP_016875433.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2194,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019945.3",
"protein_id": "XP_016875434.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2194,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019946.3",
"protein_id": "XP_016875435.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2194,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019947.3",
"protein_id": "XP_016875436.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2194,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019948.3",
"protein_id": "XP_016875437.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2194,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019949.3",
"protein_id": "XP_016875438.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2194,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2651A>G",
"hgvs_p": "p.Asn884Ser",
"transcript": "XM_011521020.3",
"protein_id": "XP_011519322.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 2193,
"cds_start": 2651,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 13616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "XM_017019950.3",
"protein_id": "XP_016875439.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 2192,
"cds_start": 2654,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 13613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Asn859Ser",
"transcript": "XM_006719017.3",
"protein_id": "XP_006719080.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 2168,
"cds_start": 2576,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 2859,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Asn859Ser",
"transcript": "XM_017019953.2",
"protein_id": "XP_016875442.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 2168,
"cds_start": 2576,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 2859,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Asn859Ser",
"transcript": "XM_017019954.2",
"protein_id": "XP_016875443.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 2168,
"cds_start": 2576,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 2859,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Asn854Ser",
"transcript": "XM_011521023.4",
"protein_id": "XP_011519325.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 2163,
"cds_start": 2561,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 3137,
"cdna_end": null,
"cdna_length": 13819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.1682A>G",
"hgvs_p": "p.Asn561Ser",
"transcript": "XM_047429520.1",
"protein_id": "XP_047285476.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 1859,
"cds_start": 1682,
"cds_end": null,
"cds_length": 5580,
"cdna_start": 4236,
"cdna_end": null,
"cdna_length": 14885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.*2106A>G",
"hgvs_p": null,
"transcript": "ENST00000672806.1",
"protein_id": "ENSP00000500218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.*2106A>G",
"hgvs_p": null,
"transcript": "ENST00000672806.1",
"protein_id": "ENSP00000500218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"dbsnp": "rs773015884",
"frequency_reference_population": 0.000027342643,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000274531,
"gnomad_genomes_af": 0.0000262847,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00003013226159964688,
"computational_prediction_selected": "Benign",
"computational_source_selected": "CardioboostArm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.241,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.556,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000347598.9",
"gene_symbol": "CACNA1C",
"hgnc_id": 1390,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2486A>G",
"hgvs_p": "p.Asn829Ser"
}
],
"clinvar_disease": "Brugada syndrome 3,Cardiovascular phenotype,Long QT syndrome,Long qt syndrome 8,Timothy syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "Long QT syndrome|Cardiovascular phenotype|Brugada syndrome 3;Timothy syndrome;Long qt syndrome 8",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}