← 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: 12-2666692-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2666692&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2666692,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000347598.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_000719.7",
"protein_id": "NP_000710.5",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "ENST00000399655.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_001167623.2",
"protein_id": "NP_001161095.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "ENST00000399603.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000399603.6",
"protein_id": "ENSP00000382512.1",
"transcript_support_level": 5,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "NM_001167623.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000399655.6",
"protein_id": "ENSP00000382563.1",
"transcript_support_level": 1,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "NM_000719.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4767T>A",
"hgvs_p": "p.Arg1589Arg",
"transcript": "ENST00000682544.1",
"protein_id": "ENSP00000507184.1",
"transcript_support_level": null,
"aa_start": 1589,
"aa_end": null,
"aa_length": 2251,
"cds_start": 4767,
"cds_end": null,
"cds_length": 6756,
"cdna_start": 5058,
"cdna_end": null,
"cdna_length": 7047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000406454.8",
"protein_id": "ENSP00000385896.3",
"transcript_support_level": 5,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2209,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6630,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 8166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4500T>A",
"hgvs_p": "p.Arg1500Arg",
"transcript": "ENST00000399634.6",
"protein_id": "ENSP00000382542.2",
"transcript_support_level": 5,
"aa_start": 1500,
"aa_end": null,
"aa_length": 2198,
"cds_start": 4500,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 5076,
"cdna_end": null,
"cdna_length": 8133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4698T>A",
"hgvs_p": "p.Arg1566Arg",
"transcript": "ENST00000683824.1",
"protein_id": "ENSP00000507867.1",
"transcript_support_level": null,
"aa_start": 1566,
"aa_end": null,
"aa_length": 2193,
"cds_start": 4698,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 4698,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4677T>A",
"hgvs_p": "p.Arg1559Arg",
"transcript": "ENST00000347598.9",
"protein_id": "ENSP00000266376.6",
"transcript_support_level": 1,
"aa_start": 1559,
"aa_end": null,
"aa_length": 2186,
"cds_start": 4677,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 5253,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4599T>A",
"hgvs_p": "p.Arg1533Arg",
"transcript": "ENST00000344100.7",
"protein_id": "ENSP00000341092.3",
"transcript_support_level": 1,
"aa_start": 1533,
"aa_end": null,
"aa_length": 2179,
"cds_start": 4599,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 4599,
"cdna_end": null,
"cdna_length": 6634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000327702.12",
"protein_id": "ENSP00000329877.7",
"transcript_support_level": 1,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2173,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000399617.6",
"protein_id": "ENSP00000382526.1",
"transcript_support_level": 5,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2173,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 4770,
"cdna_end": null,
"cdna_length": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4623T>A",
"hgvs_p": "p.Arg1541Arg",
"transcript": "ENST00000682462.1",
"protein_id": "ENSP00000507105.1",
"transcript_support_level": null,
"aa_start": 1541,
"aa_end": null,
"aa_length": 2168,
"cds_start": 4623,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 4811,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4623T>A",
"hgvs_p": "p.Arg1541Arg",
"transcript": "ENST00000683781.1",
"protein_id": "ENSP00000507434.1",
"transcript_support_level": null,
"aa_start": 1541,
"aa_end": null,
"aa_length": 2168,
"cds_start": 4623,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 4811,
"cdna_end": null,
"cdna_length": 6750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4623T>A",
"hgvs_p": "p.Arg1541Arg",
"transcript": "ENST00000683840.1",
"protein_id": "ENSP00000507612.1",
"transcript_support_level": null,
"aa_start": 1541,
"aa_end": null,
"aa_length": 2168,
"cds_start": 4623,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 4639,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4623T>A",
"hgvs_p": "p.Arg1541Arg",
"transcript": "ENST00000683956.1",
"protein_id": "ENSP00000506882.1",
"transcript_support_level": null,
"aa_start": 1541,
"aa_end": null,
"aa_length": 2168,
"cds_start": 4623,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 4639,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4617T>A",
"hgvs_p": "p.Arg1539Arg",
"transcript": "ENST00000399638.5",
"protein_id": "ENSP00000382547.1",
"transcript_support_level": 1,
"aa_start": 1539,
"aa_end": null,
"aa_length": 2166,
"cds_start": 4617,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 4617,
"cdna_end": null,
"cdna_length": 6595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4608T>A",
"hgvs_p": "p.Arg1536Arg",
"transcript": "ENST00000335762.10",
"protein_id": "ENSP00000336982.5",
"transcript_support_level": 5,
"aa_start": 1536,
"aa_end": null,
"aa_length": 2163,
"cds_start": 4608,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 5163,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4593T>A",
"hgvs_p": "p.Arg1531Arg",
"transcript": "ENST00000399606.5",
"protein_id": "ENSP00000382515.1",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2158,
"cds_start": 4593,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 4593,
"cdna_end": null,
"cdna_length": 6571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000399621.5",
"protein_id": "ENSP00000382530.1",
"transcript_support_level": 1,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2157,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 4533,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000399637.5",
"protein_id": "ENSP00000382546.1",
"transcript_support_level": 1,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2157,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 4533,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000402845.7",
"protein_id": "ENSP00000385724.3",
"transcript_support_level": 1,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2157,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 4533,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4584T>A",
"hgvs_p": "p.Arg1528Arg",
"transcript": "ENST00000399629.5",
"protein_id": "ENSP00000382537.1",
"transcript_support_level": 1,
"aa_start": 1528,
"aa_end": null,
"aa_length": 2155,
"cds_start": 4584,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 4584,
"cdna_end": null,
"cdna_length": 6562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4575T>A",
"hgvs_p": "p.Arg1525Arg",
"transcript": "ENST00000682336.1",
"protein_id": "ENSP00000507898.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 2152,
"cds_start": 4575,
"cds_end": null,
"cds_length": 6459,
"cdna_start": 4575,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4500T>A",
"hgvs_p": "p.Arg1500Arg",
"transcript": "ENST00000399591.5",
"protein_id": "ENSP00000382500.1",
"transcript_support_level": 1,
"aa_start": 1500,
"aa_end": null,
"aa_length": 2146,
"cds_start": 4500,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 4500,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4500T>A",
"hgvs_p": "p.Arg1500Arg",
"transcript": "ENST00000399595.5",
"protein_id": "ENSP00000382504.1",
"transcript_support_level": 1,
"aa_start": 1500,
"aa_end": null,
"aa_length": 2146,
"cds_start": 4500,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 4500,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4494T>A",
"hgvs_p": "p.Arg1498Arg",
"transcript": "ENST00000399649.5",
"protein_id": "ENSP00000382557.1",
"transcript_support_level": 1,
"aa_start": 1498,
"aa_end": null,
"aa_length": 2144,
"cds_start": 4494,
"cds_end": null,
"cds_length": 6435,
"cdna_start": 4494,
"cdna_end": null,
"cdna_length": 6529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000399597.5",
"protein_id": "ENSP00000382506.1",
"transcript_support_level": 1,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 4533,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000399601.5",
"protein_id": "ENSP00000382510.1",
"transcript_support_level": 1,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 4533,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000399641.6",
"protein_id": "ENSP00000382549.1",
"transcript_support_level": 1,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000399644.5",
"protein_id": "ENSP00000382552.1",
"transcript_support_level": 1,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 4533,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "ENST00000682835.1",
"protein_id": "ENSP00000507282.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5080,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4524T>A",
"hgvs_p": "p.Arg1508Arg",
"transcript": "ENST00000683482.1",
"protein_id": "ENSP00000507169.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2135,
"cds_start": 4524,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 4652,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4500T>A",
"hgvs_p": "p.Arg1500Arg",
"transcript": "ENST00000682686.1",
"protein_id": "ENSP00000507309.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 2127,
"cds_start": 4500,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 4500,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4677T>A",
"hgvs_p": "p.Arg1559Arg",
"transcript": "NM_199460.4",
"protein_id": "NP_955630.3",
"transcript_support_level": null,
"aa_start": 1559,
"aa_end": null,
"aa_length": 2221,
"cds_start": 4677,
"cds_end": null,
"cds_length": 6666,
"cdna_start": 5253,
"cdna_end": null,
"cdna_length": 13993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4500T>A",
"hgvs_p": "p.Arg1500Arg",
"transcript": "NM_001167625.2",
"protein_id": "NP_001161097.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 2198,
"cds_start": 4500,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 5076,
"cdna_end": null,
"cdna_length": 13924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4677T>A",
"hgvs_p": "p.Arg1559Arg",
"transcript": "NM_001129827.2",
"protein_id": "NP_001123299.1",
"transcript_support_level": null,
"aa_start": 1559,
"aa_end": null,
"aa_length": 2186,
"cds_start": 4677,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 5253,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4599T>A",
"hgvs_p": "p.Arg1533Arg",
"transcript": "NM_001129829.2",
"protein_id": "NP_001123301.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 2179,
"cds_start": 4599,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5175,
"cdna_end": null,
"cdna_length": 13867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_001129830.3",
"protein_id": "NP_001123302.2",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2173,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_001167624.3",
"protein_id": "NP_001161096.2",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2173,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4617T>A",
"hgvs_p": "p.Arg1539Arg",
"transcript": "NM_001129831.2",
"protein_id": "NP_001123303.1",
"transcript_support_level": null,
"aa_start": 1539,
"aa_end": null,
"aa_length": 2166,
"cds_start": 4617,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 5193,
"cdna_end": null,
"cdna_length": 13828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4593T>A",
"hgvs_p": "p.Arg1531Arg",
"transcript": "NM_001129832.2",
"protein_id": "NP_001123304.1",
"transcript_support_level": null,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2158,
"cds_start": 4593,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 5169,
"cdna_end": null,
"cdna_length": 13804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_001129833.2",
"protein_id": "NP_001123305.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2157,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_001129834.2",
"protein_id": "NP_001123306.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2157,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_001129835.2",
"protein_id": "NP_001123307.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2157,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4584T>A",
"hgvs_p": "p.Arg1528Arg",
"transcript": "NM_001129836.2",
"protein_id": "NP_001123308.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 2155,
"cds_start": 4584,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 5160,
"cdna_end": null,
"cdna_length": 13795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4500T>A",
"hgvs_p": "p.Arg1500Arg",
"transcript": "NM_001129837.2",
"protein_id": "NP_001123309.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 2146,
"cds_start": 4500,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 5076,
"cdna_end": null,
"cdna_length": 13768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4500T>A",
"hgvs_p": "p.Arg1500Arg",
"transcript": "NM_001129838.2",
"protein_id": "NP_001123310.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 2146,
"cds_start": 4500,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 5076,
"cdna_end": null,
"cdna_length": 13768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4494T>A",
"hgvs_p": "p.Arg1498Arg",
"transcript": "NM_001129839.2",
"protein_id": "NP_001123311.1",
"transcript_support_level": null,
"aa_start": 1498,
"aa_end": null,
"aa_length": 2144,
"cds_start": 4494,
"cds_end": null,
"cds_length": 6435,
"cdna_start": 5070,
"cdna_end": null,
"cdna_length": 13762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_001129840.2",
"protein_id": "NP_001123312.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_001129841.2",
"protein_id": "NP_001123313.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_001129842.2",
"protein_id": "NP_001123314.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4533T>A",
"hgvs_p": "p.Arg1511Arg",
"transcript": "NM_001129843.2",
"protein_id": "NP_001123315.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 2138,
"cds_start": 4533,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4524T>A",
"hgvs_p": "p.Arg1508Arg",
"transcript": "NM_001129844.2",
"protein_id": "NP_001123316.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2135,
"cds_start": 4524,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 5100,
"cdna_end": null,
"cdna_length": 13735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4500T>A",
"hgvs_p": "p.Arg1500Arg",
"transcript": "NM_001129846.2",
"protein_id": "NP_001123318.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 2127,
"cds_start": 4500,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 5076,
"cdna_end": null,
"cdna_length": 13711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4980T>A",
"hgvs_p": "p.Arg1660Arg",
"transcript": "XM_017019926.3",
"protein_id": "XP_016875415.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2412,
"cds_start": 4980,
"cds_end": null,
"cds_length": 7239,
"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 14273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4980T>A",
"hgvs_p": "p.Arg1660Arg",
"transcript": "XM_017019927.3",
"protein_id": "XP_016875416.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2377,
"cds_start": 4980,
"cds_end": null,
"cds_length": 7134,
"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 14168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4980T>A",
"hgvs_p": "p.Arg1660Arg",
"transcript": "XM_047429513.1",
"protein_id": "XP_047285469.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2358,
"cds_start": 4980,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 14111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4980T>A",
"hgvs_p": "p.Arg1660Arg",
"transcript": "XM_017019928.3",
"protein_id": "XP_016875417.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2306,
"cds_start": 4980,
"cds_end": null,
"cds_length": 6921,
"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 13955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4980T>A",
"hgvs_p": "p.Arg1660Arg",
"transcript": "XM_017019929.3",
"protein_id": "XP_016875418.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2287,
"cds_start": 4980,
"cds_end": null,
"cds_length": 6864,
"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 13898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4980T>A",
"hgvs_p": "p.Arg1660Arg",
"transcript": "XM_017019930.3",
"protein_id": "XP_016875419.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2287,
"cds_start": 4980,
"cds_end": null,
"cds_length": 6864,
"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 13898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4974T>A",
"hgvs_p": "p.Arg1658Arg",
"transcript": "XM_047429514.1",
"protein_id": "XP_047285470.1",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 2285,
"cds_start": 4974,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 5257,
"cdna_end": null,
"cdna_length": 13892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4896T>A",
"hgvs_p": "p.Arg1632Arg",
"transcript": "XM_017019931.3",
"protein_id": "XP_016875420.1",
"transcript_support_level": null,
"aa_start": 1632,
"aa_end": null,
"aa_length": 2259,
"cds_start": 4896,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 5179,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4896T>A",
"hgvs_p": "p.Arg1632Arg",
"transcript": "XM_047429515.1",
"protein_id": "XP_047285471.1",
"transcript_support_level": null,
"aa_start": 1632,
"aa_end": null,
"aa_length": 2259,
"cds_start": 4896,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 5179,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4896T>A",
"hgvs_p": "p.Arg1632Arg",
"transcript": "XM_047429516.1",
"protein_id": "XP_047285472.1",
"transcript_support_level": null,
"aa_start": 1632,
"aa_end": null,
"aa_length": 2259,
"cds_start": 4896,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 5179,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4668T>A",
"hgvs_p": "p.Arg1556Arg",
"transcript": "XM_017019932.3",
"protein_id": "XP_016875421.1",
"transcript_support_level": null,
"aa_start": 1556,
"aa_end": null,
"aa_length": 2254,
"cds_start": 4668,
"cds_end": null,
"cds_length": 6765,
"cdna_start": 4951,
"cdna_end": null,
"cdna_length": 13799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4863T>A",
"hgvs_p": "p.Arg1621Arg",
"transcript": "XM_047429517.1",
"protein_id": "XP_047285473.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 2248,
"cds_start": 4863,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 5146,
"cdna_end": null,
"cdna_length": 13781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4863T>A",
"hgvs_p": "p.Arg1621Arg",
"transcript": "XM_047429518.1",
"protein_id": "XP_047285474.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 2248,
"cds_start": 4863,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 5146,
"cdna_end": null,
"cdna_length": 13781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4785T>A",
"hgvs_p": "p.Arg1595Arg",
"transcript": "XM_017019933.3",
"protein_id": "XP_016875422.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2222,
"cds_start": 4785,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 5068,
"cdna_end": null,
"cdna_length": 13703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4776T>A",
"hgvs_p": "p.Arg1592Arg",
"transcript": "XM_017019934.3",
"protein_id": "XP_016875423.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 2219,
"cds_start": 4776,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 5059,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4776T>A",
"hgvs_p": "p.Arg1592Arg",
"transcript": "XM_017019935.3",
"protein_id": "XP_016875424.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 2219,
"cds_start": 4776,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 5059,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4776T>A",
"hgvs_p": "p.Arg1592Arg",
"transcript": "XM_017019955.3",
"protein_id": "XP_016875444.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 2219,
"cds_start": 4776,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 5059,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4776T>A",
"hgvs_p": "p.Arg1592Arg",
"transcript": "XM_047429519.1",
"protein_id": "XP_047285475.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 2219,
"cds_start": 4776,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 5059,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4752T>A",
"hgvs_p": "p.Arg1584Arg",
"transcript": "XM_017019939.3",
"protein_id": "XP_016875428.1",
"transcript_support_level": null,
"aa_start": 1584,
"aa_end": null,
"aa_length": 2211,
"cds_start": 4752,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 5035,
"cdna_end": null,
"cdna_length": 13670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4701T>A",
"hgvs_p": "p.Arg1567Arg",
"transcript": "XM_017019943.3",
"protein_id": "XP_016875432.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 2194,
"cds_start": 4701,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4701T>A",
"hgvs_p": "p.Arg1567Arg",
"transcript": "XM_017019944.3",
"protein_id": "XP_016875433.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 2194,
"cds_start": 4701,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4701T>A",
"hgvs_p": "p.Arg1567Arg",
"transcript": "XM_017019945.3",
"protein_id": "XP_016875434.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 2194,
"cds_start": 4701,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4701T>A",
"hgvs_p": "p.Arg1567Arg",
"transcript": "XM_017019946.3",
"protein_id": "XP_016875435.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 2194,
"cds_start": 4701,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4701T>A",
"hgvs_p": "p.Arg1567Arg",
"transcript": "XM_017019947.3",
"protein_id": "XP_016875436.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 2194,
"cds_start": 4701,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4701T>A",
"hgvs_p": "p.Arg1567Arg",
"transcript": "XM_017019948.3",
"protein_id": "XP_016875437.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 2194,
"cds_start": 4701,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4701T>A",
"hgvs_p": "p.Arg1567Arg",
"transcript": "XM_017019949.3",
"protein_id": "XP_016875438.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 2194,
"cds_start": 4701,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4698T>A",
"hgvs_p": "p.Arg1566Arg",
"transcript": "XM_011521020.3",
"protein_id": "XP_011519322.1",
"transcript_support_level": null,
"aa_start": 1566,
"aa_end": null,
"aa_length": 2193,
"cds_start": 4698,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 4981,
"cdna_end": null,
"cdna_length": 13616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4695T>A",
"hgvs_p": "p.Arg1565Arg",
"transcript": "XM_017019950.3",
"protein_id": "XP_016875439.1",
"transcript_support_level": null,
"aa_start": 1565,
"aa_end": null,
"aa_length": 2192,
"cds_start": 4695,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 4978,
"cdna_end": null,
"cdna_length": 13613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4623T>A",
"hgvs_p": "p.Arg1541Arg",
"transcript": "XM_006719017.3",
"protein_id": "XP_006719080.1",
"transcript_support_level": null,
"aa_start": 1541,
"aa_end": null,
"aa_length": 2168,
"cds_start": 4623,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 4906,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4623T>A",
"hgvs_p": "p.Arg1541Arg",
"transcript": "XM_017019953.2",
"protein_id": "XP_016875442.1",
"transcript_support_level": null,
"aa_start": 1541,
"aa_end": null,
"aa_length": 2168,
"cds_start": 4623,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 4906,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4623T>A",
"hgvs_p": "p.Arg1541Arg",
"transcript": "XM_017019954.2",
"protein_id": "XP_016875443.1",
"transcript_support_level": null,
"aa_start": 1541,
"aa_end": null,
"aa_length": 2168,
"cds_start": 4623,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 4906,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4608T>A",
"hgvs_p": "p.Arg1536Arg",
"transcript": "XM_011521023.4",
"protein_id": "XP_011519325.1",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 2163,
"cds_start": 4608,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 5184,
"cdna_end": null,
"cdna_length": 13819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.3696T>A",
"hgvs_p": "p.Arg1232Arg",
"transcript": "XM_047429520.1",
"protein_id": "XP_047285476.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1859,
"cds_start": 3696,
"cds_end": null,
"cds_length": 5580,
"cdna_start": 6250,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.77T>A",
"hgvs_p": null,
"transcript": "ENST00000465934.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 581,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.881T>A",
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.675T>A",
"hgvs_p": null,
"transcript": "ENST00000682320.1",
"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": 1392,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.1036T>A",
"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
}
],
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"dbsnp": "rs1060504920",
"frequency_reference_population": 6.959291e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.95929e-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": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.919,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000347598.9",
"gene_symbol": "CACNA1C",
"hgnc_id": 1390,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4677T>A",
"hgvs_p": "p.Arg1559Arg"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}