← 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: 12-2679712-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2679712&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2679712,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000347598.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "NM_000719.7",
"protein_id": "NP_000710.5",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "ENST00000399655.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "NM_001167623.2",
"protein_id": "NP_001161095.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "ENST00000399603.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "ENST00000399603.6",
"protein_id": "ENSP00000382512.1",
"transcript_support_level": 5,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "NM_001167623.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "ENST00000399655.6",
"protein_id": "ENSP00000382563.1",
"transcript_support_level": 1,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "NM_000719.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5594C>G",
"hgvs_p": "p.Thr1865Arg",
"transcript": "ENST00000682544.1",
"protein_id": "ENSP00000507184.1",
"transcript_support_level": null,
"aa_start": 1865,
"aa_end": null,
"aa_length": 2251,
"cds_start": 5594,
"cds_end": null,
"cds_length": 6756,
"cdna_start": 5885,
"cdna_end": null,
"cdna_length": 7047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "ENST00000406454.8",
"protein_id": "ENSP00000385896.3",
"transcript_support_level": 5,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2209,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6630,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 8166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5327C>G",
"hgvs_p": "p.Thr1776Arg",
"transcript": "ENST00000399634.6",
"protein_id": "ENSP00000382542.2",
"transcript_support_level": 5,
"aa_start": 1776,
"aa_end": null,
"aa_length": 2198,
"cds_start": 5327,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 5903,
"cdna_end": null,
"cdna_length": 8133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5525C>G",
"hgvs_p": "p.Thr1842Arg",
"transcript": "ENST00000683824.1",
"protein_id": "ENSP00000507867.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 2193,
"cds_start": 5525,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 5525,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5504C>G",
"hgvs_p": "p.Thr1835Arg",
"transcript": "ENST00000347598.9",
"protein_id": "ENSP00000266376.6",
"transcript_support_level": 1,
"aa_start": 1835,
"aa_end": null,
"aa_length": 2186,
"cds_start": 5504,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 6080,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5483C>G",
"hgvs_p": "p.Thr1828Arg",
"transcript": "ENST00000344100.7",
"protein_id": "ENSP00000341092.3",
"transcript_support_level": 1,
"aa_start": 1828,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5483,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5483,
"cdna_end": null,
"cdna_length": 6634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "ENST00000327702.12",
"protein_id": "ENSP00000329877.7",
"transcript_support_level": 1,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "ENST00000399617.6",
"protein_id": "ENSP00000382526.1",
"transcript_support_level": 5,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 5597,
"cdna_end": null,
"cdna_length": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5450C>G",
"hgvs_p": "p.Thr1817Arg",
"transcript": "ENST00000682462.1",
"protein_id": "ENSP00000507105.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5450,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5638,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5450C>G",
"hgvs_p": "p.Thr1817Arg",
"transcript": "ENST00000683781.1",
"protein_id": "ENSP00000507434.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5450,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5638,
"cdna_end": null,
"cdna_length": 6750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5450C>G",
"hgvs_p": "p.Thr1817Arg",
"transcript": "ENST00000683840.1",
"protein_id": "ENSP00000507612.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5450,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5466,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5450C>G",
"hgvs_p": "p.Thr1817Arg",
"transcript": "ENST00000683956.1",
"protein_id": "ENSP00000506882.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5450,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5466,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5444C>G",
"hgvs_p": "p.Thr1815Arg",
"transcript": "ENST00000399638.5",
"protein_id": "ENSP00000382547.1",
"transcript_support_level": 1,
"aa_start": 1815,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5444,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 5444,
"cdna_end": null,
"cdna_length": 6595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5435C>G",
"hgvs_p": "p.Thr1812Arg",
"transcript": "ENST00000335762.10",
"protein_id": "ENSP00000336982.5",
"transcript_support_level": 5,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2163,
"cds_start": 5435,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 5990,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5420C>G",
"hgvs_p": "p.Thr1807Arg",
"transcript": "ENST00000399606.5",
"protein_id": "ENSP00000382515.1",
"transcript_support_level": 1,
"aa_start": 1807,
"aa_end": null,
"aa_length": 2158,
"cds_start": 5420,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 5420,
"cdna_end": null,
"cdna_length": 6571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5417C>G",
"hgvs_p": "p.Thr1806Arg",
"transcript": "ENST00000399621.5",
"protein_id": "ENSP00000382530.1",
"transcript_support_level": 1,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5417,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5417,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5417C>G",
"hgvs_p": "p.Thr1806Arg",
"transcript": "ENST00000399637.5",
"protein_id": "ENSP00000382546.1",
"transcript_support_level": 1,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5417,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5417,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5417C>G",
"hgvs_p": "p.Thr1806Arg",
"transcript": "ENST00000402845.7",
"protein_id": "ENSP00000385724.3",
"transcript_support_level": 1,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5417,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5417,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5411C>G",
"hgvs_p": "p.Thr1804Arg",
"transcript": "ENST00000399629.5",
"protein_id": "ENSP00000382537.1",
"transcript_support_level": 1,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2155,
"cds_start": 5411,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 5411,
"cdna_end": null,
"cdna_length": 6562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5402C>G",
"hgvs_p": "p.Thr1801Arg",
"transcript": "ENST00000682336.1",
"protein_id": "ENSP00000507898.1",
"transcript_support_level": null,
"aa_start": 1801,
"aa_end": null,
"aa_length": 2152,
"cds_start": 5402,
"cds_end": null,
"cds_length": 6459,
"cdna_start": 5402,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5384C>G",
"hgvs_p": "p.Thr1795Arg",
"transcript": "ENST00000399591.5",
"protein_id": "ENSP00000382500.1",
"transcript_support_level": 1,
"aa_start": 1795,
"aa_end": null,
"aa_length": 2146,
"cds_start": 5384,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 5384,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5384C>G",
"hgvs_p": "p.Thr1795Arg",
"transcript": "ENST00000399595.5",
"protein_id": "ENSP00000382504.1",
"transcript_support_level": 1,
"aa_start": 1795,
"aa_end": null,
"aa_length": 2146,
"cds_start": 5384,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 5384,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5378C>G",
"hgvs_p": "p.Thr1793Arg",
"transcript": "ENST00000399649.5",
"protein_id": "ENSP00000382557.1",
"transcript_support_level": 1,
"aa_start": 1793,
"aa_end": null,
"aa_length": 2144,
"cds_start": 5378,
"cds_end": null,
"cds_length": 6435,
"cdna_start": 5378,
"cdna_end": null,
"cdna_length": 6529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "ENST00000399597.5",
"protein_id": "ENSP00000382506.1",
"transcript_support_level": 1,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5360,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "ENST00000399601.5",
"protein_id": "ENSP00000382510.1",
"transcript_support_level": 1,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5360,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "ENST00000399641.6",
"protein_id": "ENSP00000382549.1",
"transcript_support_level": 1,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "ENST00000399644.5",
"protein_id": "ENSP00000382552.1",
"transcript_support_level": 1,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5360,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "ENST00000682835.1",
"protein_id": "ENSP00000507282.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5907,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5351C>G",
"hgvs_p": "p.Thr1784Arg",
"transcript": "ENST00000683482.1",
"protein_id": "ENSP00000507169.1",
"transcript_support_level": null,
"aa_start": 1784,
"aa_end": null,
"aa_length": 2135,
"cds_start": 5351,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 5479,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5327C>G",
"hgvs_p": "p.Thr1776Arg",
"transcript": "ENST00000682686.1",
"protein_id": "ENSP00000507309.1",
"transcript_support_level": null,
"aa_start": 1776,
"aa_end": null,
"aa_length": 2127,
"cds_start": 5327,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 5327,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5504C>G",
"hgvs_p": "p.Thr1835Arg",
"transcript": "NM_199460.4",
"protein_id": "NP_955630.3",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 2221,
"cds_start": 5504,
"cds_end": null,
"cds_length": 6666,
"cdna_start": 6080,
"cdna_end": null,
"cdna_length": 13993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5327C>G",
"hgvs_p": "p.Thr1776Arg",
"transcript": "NM_001167625.2",
"protein_id": "NP_001161097.1",
"transcript_support_level": null,
"aa_start": 1776,
"aa_end": null,
"aa_length": 2198,
"cds_start": 5327,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 5903,
"cdna_end": null,
"cdna_length": 13924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5504C>G",
"hgvs_p": "p.Thr1835Arg",
"transcript": "NM_001129827.2",
"protein_id": "NP_001123299.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 2186,
"cds_start": 5504,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 6080,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5483C>G",
"hgvs_p": "p.Thr1828Arg",
"transcript": "NM_001129829.2",
"protein_id": "NP_001123301.1",
"transcript_support_level": null,
"aa_start": 1828,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5483,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 6059,
"cdna_end": null,
"cdna_length": 13867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "NM_001129830.3",
"protein_id": "NP_001123302.2",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "NM_001167624.3",
"protein_id": "NP_001161096.2",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5444C>G",
"hgvs_p": "p.Thr1815Arg",
"transcript": "NM_001129831.2",
"protein_id": "NP_001123303.1",
"transcript_support_level": null,
"aa_start": 1815,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5444,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 6020,
"cdna_end": null,
"cdna_length": 13828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5420C>G",
"hgvs_p": "p.Thr1807Arg",
"transcript": "NM_001129832.2",
"protein_id": "NP_001123304.1",
"transcript_support_level": null,
"aa_start": 1807,
"aa_end": null,
"aa_length": 2158,
"cds_start": 5420,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 5996,
"cdna_end": null,
"cdna_length": 13804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5417C>G",
"hgvs_p": "p.Thr1806Arg",
"transcript": "NM_001129833.2",
"protein_id": "NP_001123305.1",
"transcript_support_level": null,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5417,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5993,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5417C>G",
"hgvs_p": "p.Thr1806Arg",
"transcript": "NM_001129834.2",
"protein_id": "NP_001123306.1",
"transcript_support_level": null,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5417,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5993,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5417C>G",
"hgvs_p": "p.Thr1806Arg",
"transcript": "NM_001129835.2",
"protein_id": "NP_001123307.1",
"transcript_support_level": null,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5417,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5993,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5411C>G",
"hgvs_p": "p.Thr1804Arg",
"transcript": "NM_001129836.2",
"protein_id": "NP_001123308.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2155,
"cds_start": 5411,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 5987,
"cdna_end": null,
"cdna_length": 13795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5384C>G",
"hgvs_p": "p.Thr1795Arg",
"transcript": "NM_001129837.2",
"protein_id": "NP_001123309.1",
"transcript_support_level": null,
"aa_start": 1795,
"aa_end": null,
"aa_length": 2146,
"cds_start": 5384,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 5960,
"cdna_end": null,
"cdna_length": 13768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5384C>G",
"hgvs_p": "p.Thr1795Arg",
"transcript": "NM_001129838.2",
"protein_id": "NP_001123310.1",
"transcript_support_level": null,
"aa_start": 1795,
"aa_end": null,
"aa_length": 2146,
"cds_start": 5384,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 5960,
"cdna_end": null,
"cdna_length": 13768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5378C>G",
"hgvs_p": "p.Thr1793Arg",
"transcript": "NM_001129839.2",
"protein_id": "NP_001123311.1",
"transcript_support_level": null,
"aa_start": 1793,
"aa_end": null,
"aa_length": 2144,
"cds_start": 5378,
"cds_end": null,
"cds_length": 6435,
"cdna_start": 5954,
"cdna_end": null,
"cdna_length": 13762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "NM_001129840.2",
"protein_id": "NP_001123312.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "NM_001129841.2",
"protein_id": "NP_001123313.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "NM_001129842.2",
"protein_id": "NP_001123314.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5360C>G",
"hgvs_p": "p.Thr1787Arg",
"transcript": "NM_001129843.2",
"protein_id": "NP_001123315.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5936,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5351C>G",
"hgvs_p": "p.Thr1784Arg",
"transcript": "NM_001129844.2",
"protein_id": "NP_001123316.1",
"transcript_support_level": null,
"aa_start": 1784,
"aa_end": null,
"aa_length": 2135,
"cds_start": 5351,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 5927,
"cdna_end": null,
"cdna_length": 13735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5327C>G",
"hgvs_p": "p.Thr1776Arg",
"transcript": "NM_001129846.2",
"protein_id": "NP_001123318.1",
"transcript_support_level": null,
"aa_start": 1776,
"aa_end": null,
"aa_length": 2127,
"cds_start": 5327,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 5903,
"cdna_end": null,
"cdna_length": 13711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5864C>G",
"hgvs_p": "p.Thr1955Arg",
"transcript": "XM_017019926.3",
"protein_id": "XP_016875415.1",
"transcript_support_level": null,
"aa_start": 1955,
"aa_end": null,
"aa_length": 2412,
"cds_start": 5864,
"cds_end": null,
"cds_length": 7239,
"cdna_start": 6147,
"cdna_end": null,
"cdna_length": 14273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5864C>G",
"hgvs_p": "p.Thr1955Arg",
"transcript": "XM_017019927.3",
"protein_id": "XP_016875416.1",
"transcript_support_level": null,
"aa_start": 1955,
"aa_end": null,
"aa_length": 2377,
"cds_start": 5864,
"cds_end": null,
"cds_length": 7134,
"cdna_start": 6147,
"cdna_end": null,
"cdna_length": 14168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5807C>G",
"hgvs_p": "p.Thr1936Arg",
"transcript": "XM_047429513.1",
"protein_id": "XP_047285469.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2358,
"cds_start": 5807,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6090,
"cdna_end": null,
"cdna_length": 14111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5864C>G",
"hgvs_p": "p.Thr1955Arg",
"transcript": "XM_017019928.3",
"protein_id": "XP_016875417.1",
"transcript_support_level": null,
"aa_start": 1955,
"aa_end": null,
"aa_length": 2306,
"cds_start": 5864,
"cds_end": null,
"cds_length": 6921,
"cdna_start": 6147,
"cdna_end": null,
"cdna_length": 13955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5807C>G",
"hgvs_p": "p.Thr1936Arg",
"transcript": "XM_017019929.3",
"protein_id": "XP_016875418.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2287,
"cds_start": 5807,
"cds_end": null,
"cds_length": 6864,
"cdna_start": 6090,
"cdna_end": null,
"cdna_length": 13898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5807C>G",
"hgvs_p": "p.Thr1936Arg",
"transcript": "XM_017019930.3",
"protein_id": "XP_016875419.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2287,
"cds_start": 5807,
"cds_end": null,
"cds_length": 6864,
"cdna_start": 6090,
"cdna_end": null,
"cdna_length": 13898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5801C>G",
"hgvs_p": "p.Thr1934Arg",
"transcript": "XM_047429514.1",
"protein_id": "XP_047285470.1",
"transcript_support_level": null,
"aa_start": 1934,
"aa_end": null,
"aa_length": 2285,
"cds_start": 5801,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 6084,
"cdna_end": null,
"cdna_length": 13892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5723C>G",
"hgvs_p": "p.Thr1908Arg",
"transcript": "XM_017019931.3",
"protein_id": "XP_016875420.1",
"transcript_support_level": null,
"aa_start": 1908,
"aa_end": null,
"aa_length": 2259,
"cds_start": 5723,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 6006,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5723C>G",
"hgvs_p": "p.Thr1908Arg",
"transcript": "XM_047429515.1",
"protein_id": "XP_047285471.1",
"transcript_support_level": null,
"aa_start": 1908,
"aa_end": null,
"aa_length": 2259,
"cds_start": 5723,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 6006,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5723C>G",
"hgvs_p": "p.Thr1908Arg",
"transcript": "XM_047429516.1",
"protein_id": "XP_047285472.1",
"transcript_support_level": null,
"aa_start": 1908,
"aa_end": null,
"aa_length": 2259,
"cds_start": 5723,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 6006,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5495C>G",
"hgvs_p": "p.Thr1832Arg",
"transcript": "XM_017019932.3",
"protein_id": "XP_016875421.1",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 2254,
"cds_start": 5495,
"cds_end": null,
"cds_length": 6765,
"cdna_start": 5778,
"cdna_end": null,
"cdna_length": 13799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5690C>G",
"hgvs_p": "p.Thr1897Arg",
"transcript": "XM_047429517.1",
"protein_id": "XP_047285473.1",
"transcript_support_level": null,
"aa_start": 1897,
"aa_end": null,
"aa_length": 2248,
"cds_start": 5690,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 5973,
"cdna_end": null,
"cdna_length": 13781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5690C>G",
"hgvs_p": "p.Thr1897Arg",
"transcript": "XM_047429518.1",
"protein_id": "XP_047285474.1",
"transcript_support_level": null,
"aa_start": 1897,
"aa_end": null,
"aa_length": 2248,
"cds_start": 5690,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 5973,
"cdna_end": null,
"cdna_length": 13781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5612C>G",
"hgvs_p": "p.Thr1871Arg",
"transcript": "XM_017019933.3",
"protein_id": "XP_016875422.1",
"transcript_support_level": null,
"aa_start": 1871,
"aa_end": null,
"aa_length": 2222,
"cds_start": 5612,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 5895,
"cdna_end": null,
"cdna_length": 13703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5603C>G",
"hgvs_p": "p.Thr1868Arg",
"transcript": "XM_017019934.3",
"protein_id": "XP_016875423.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 2219,
"cds_start": 5603,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 5886,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5603C>G",
"hgvs_p": "p.Thr1868Arg",
"transcript": "XM_017019935.3",
"protein_id": "XP_016875424.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 2219,
"cds_start": 5603,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 5886,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5603C>G",
"hgvs_p": "p.Thr1868Arg",
"transcript": "XM_017019955.3",
"protein_id": "XP_016875444.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 2219,
"cds_start": 5603,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 5886,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5603C>G",
"hgvs_p": "p.Thr1868Arg",
"transcript": "XM_047429519.1",
"protein_id": "XP_047285475.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 2219,
"cds_start": 5603,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 5886,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5579C>G",
"hgvs_p": "p.Thr1860Arg",
"transcript": "XM_017019939.3",
"protein_id": "XP_016875428.1",
"transcript_support_level": null,
"aa_start": 1860,
"aa_end": null,
"aa_length": 2211,
"cds_start": 5579,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 5862,
"cdna_end": null,
"cdna_length": 13670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5528C>G",
"hgvs_p": "p.Thr1843Arg",
"transcript": "XM_017019943.3",
"protein_id": "XP_016875432.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5528,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5528C>G",
"hgvs_p": "p.Thr1843Arg",
"transcript": "XM_017019944.3",
"protein_id": "XP_016875433.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5528,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5528C>G",
"hgvs_p": "p.Thr1843Arg",
"transcript": "XM_017019945.3",
"protein_id": "XP_016875434.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5528,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5528C>G",
"hgvs_p": "p.Thr1843Arg",
"transcript": "XM_017019946.3",
"protein_id": "XP_016875435.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5528,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5528C>G",
"hgvs_p": "p.Thr1843Arg",
"transcript": "XM_017019947.3",
"protein_id": "XP_016875436.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5528,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5528C>G",
"hgvs_p": "p.Thr1843Arg",
"transcript": "XM_017019948.3",
"protein_id": "XP_016875437.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5528,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5528C>G",
"hgvs_p": "p.Thr1843Arg",
"transcript": "XM_017019949.3",
"protein_id": "XP_016875438.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5528,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5525C>G",
"hgvs_p": "p.Thr1842Arg",
"transcript": "XM_011521020.3",
"protein_id": "XP_011519322.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 2193,
"cds_start": 5525,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 5808,
"cdna_end": null,
"cdna_length": 13616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5522C>G",
"hgvs_p": "p.Thr1841Arg",
"transcript": "XM_017019950.3",
"protein_id": "XP_016875439.1",
"transcript_support_level": null,
"aa_start": 1841,
"aa_end": null,
"aa_length": 2192,
"cds_start": 5522,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 5805,
"cdna_end": null,
"cdna_length": 13613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5450C>G",
"hgvs_p": "p.Thr1817Arg",
"transcript": "XM_006719017.3",
"protein_id": "XP_006719080.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5450,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5733,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5450C>G",
"hgvs_p": "p.Thr1817Arg",
"transcript": "XM_017019953.2",
"protein_id": "XP_016875442.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5450,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5733,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5450C>G",
"hgvs_p": "p.Thr1817Arg",
"transcript": "XM_017019954.2",
"protein_id": "XP_016875443.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5450,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5733,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5435C>G",
"hgvs_p": "p.Thr1812Arg",
"transcript": "XM_011521023.4",
"protein_id": "XP_011519325.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2163,
"cds_start": 5435,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 6011,
"cdna_end": null,
"cdna_length": 13819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4523C>G",
"hgvs_p": "p.Thr1508Arg",
"transcript": "XM_047429520.1",
"protein_id": "XP_047285476.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1859,
"cds_start": 4523,
"cds_end": null,
"cds_length": 5580,
"cdna_start": 7077,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.1708C>G",
"hgvs_p": null,
"transcript": "ENST00000616390.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2833,
"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": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.1863C>G",
"hgvs_p": null,
"transcript": "ENST00000684467.1",
"protein_id": null,
"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": 3016,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.490C>G",
"hgvs_p": null,
"transcript": "ENST00000684752.1",
"protein_id": null,
"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": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.295-1815G>C",
"hgvs_p": null,
"transcript": "ENST00000501371.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.904-7466G>C",
"hgvs_p": null,
"transcript": "ENST00000545526.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.423-7470G>C",
"hgvs_p": null,
"transcript": "ENST00000715729.1",
"protein_id": null,
"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": 1053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.430-1815G>C",
"hgvs_p": null,
"transcript": "ENST00000839340.1",
"protein_id": null,
"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": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.203-7466G>C",
"hgvs_p": null,
"transcript": "ENST00000839341.1",
"protein_id": null,
"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": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.193-7466G>C",
"hgvs_p": null,
"transcript": "ENST00000839348.1",
"protein_id": null,
"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": 820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.364-7466G>C",
"hgvs_p": null,
"transcript": "ENST00000839357.1",
"protein_id": null,
"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": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.272-7466G>C",
"hgvs_p": null,
"transcript": "ENST00000839358.1",
"protein_id": null,
"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": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.93-7466G>C",
"hgvs_p": null,
"transcript": "ENST00000839359.1",
"protein_id": null,
"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": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNA1C-AS1",
"gene_hgnc_id": 40119,
"hgvs_c": "n.334-1815G>C",
"hgvs_p": null,
"transcript": "NR_045725.1",
"protein_id": null,
"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": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"dbsnp": "rs192749597",
"frequency_reference_population": 6.857563e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85756e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000001962491523954668,
"computational_prediction_selected": "Benign",
"computational_source_selected": "CardioboostArm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.1468,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.832,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000347598.9",
"gene_symbol": "CACNA1C",
"hgnc_id": 1390,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5504C>G",
"hgvs_p": "p.Thr1835Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000501371.5",
"gene_symbol": "ITFG2-AS1",
"hgnc_id": 53128,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.295-1815G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_045725.1",
"gene_symbol": "CACNA1C-AS1",
"hgnc_id": 40119,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.334-1815G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}