← 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: 12-2686232-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2686232&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2686232,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000347598.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "NM_000719.7",
"protein_id": "NP_000710.5",
"transcript_support_level": null,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6323,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "ENST00000399655.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "NM_001167623.2",
"protein_id": "NP_001161095.1",
"transcript_support_level": null,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6323,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "ENST00000399603.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "ENST00000399603.6",
"protein_id": "ENSP00000382512.1",
"transcript_support_level": 5,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6323,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "NM_001167623.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "ENST00000399655.6",
"protein_id": "ENSP00000382563.1",
"transcript_support_level": 1,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6323,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "NM_000719.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6086A>G",
"hgvs_p": "p.Gln2029Arg",
"transcript": "ENST00000682544.1",
"protein_id": "ENSP00000507184.1",
"transcript_support_level": null,
"aa_start": 2029,
"aa_end": null,
"aa_length": 2251,
"cds_start": 6086,
"cds_end": null,
"cds_length": 6756,
"cdna_start": 6377,
"cdna_end": null,
"cdna_length": 7047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5960A>G",
"hgvs_p": "p.Gln1987Arg",
"transcript": "ENST00000406454.8",
"protein_id": "ENSP00000385896.3",
"transcript_support_level": 5,
"aa_start": 1987,
"aa_end": null,
"aa_length": 2209,
"cds_start": 5960,
"cds_end": null,
"cds_length": 6630,
"cdna_start": 6536,
"cdna_end": null,
"cdna_length": 8166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5927A>G",
"hgvs_p": "p.Gln1976Arg",
"transcript": "ENST00000399634.6",
"protein_id": "ENSP00000382542.2",
"transcript_support_level": 5,
"aa_start": 1976,
"aa_end": null,
"aa_length": 2198,
"cds_start": 5927,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 6503,
"cdna_end": null,
"cdna_length": 8133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5912A>G",
"hgvs_p": "p.Gln1971Arg",
"transcript": "ENST00000683824.1",
"protein_id": "ENSP00000507867.1",
"transcript_support_level": null,
"aa_start": 1971,
"aa_end": null,
"aa_length": 2193,
"cds_start": 5912,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 5912,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5891A>G",
"hgvs_p": "p.Gln1964Arg",
"transcript": "ENST00000347598.9",
"protein_id": "ENSP00000266376.6",
"transcript_support_level": 1,
"aa_start": 1964,
"aa_end": null,
"aa_length": 2186,
"cds_start": 5891,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 6467,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5870A>G",
"hgvs_p": "p.Gln1957Arg",
"transcript": "ENST00000344100.7",
"protein_id": "ENSP00000341092.3",
"transcript_support_level": 1,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5870,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5870,
"cdna_end": null,
"cdna_length": 6634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5852A>G",
"hgvs_p": "p.Gln1951Arg",
"transcript": "ENST00000327702.12",
"protein_id": "ENSP00000329877.7",
"transcript_support_level": 1,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5852,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 6428,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5852A>G",
"hgvs_p": "p.Gln1951Arg",
"transcript": "ENST00000399617.6",
"protein_id": "ENSP00000382526.1",
"transcript_support_level": 5,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5852,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 6089,
"cdna_end": null,
"cdna_length": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5837A>G",
"hgvs_p": "p.Gln1946Arg",
"transcript": "ENST00000682462.1",
"protein_id": "ENSP00000507105.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5837,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6025,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5837A>G",
"hgvs_p": "p.Gln1946Arg",
"transcript": "ENST00000683781.1",
"protein_id": "ENSP00000507434.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5837,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6025,
"cdna_end": null,
"cdna_length": 6750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5837A>G",
"hgvs_p": "p.Gln1946Arg",
"transcript": "ENST00000683840.1",
"protein_id": "ENSP00000507612.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5837,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5853,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5837A>G",
"hgvs_p": "p.Gln1946Arg",
"transcript": "ENST00000683956.1",
"protein_id": "ENSP00000506882.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5837,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5853,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5831A>G",
"hgvs_p": "p.Gln1944Arg",
"transcript": "ENST00000399638.5",
"protein_id": "ENSP00000382547.1",
"transcript_support_level": 1,
"aa_start": 1944,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5831,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 5831,
"cdna_end": null,
"cdna_length": 6595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5822A>G",
"hgvs_p": "p.Gln1941Arg",
"transcript": "ENST00000335762.10",
"protein_id": "ENSP00000336982.5",
"transcript_support_level": 5,
"aa_start": 1941,
"aa_end": null,
"aa_length": 2163,
"cds_start": 5822,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 6377,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5807A>G",
"hgvs_p": "p.Gln1936Arg",
"transcript": "ENST00000399606.5",
"protein_id": "ENSP00000382515.1",
"transcript_support_level": 1,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2158,
"cds_start": 5807,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 5807,
"cdna_end": null,
"cdna_length": 6571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5804A>G",
"hgvs_p": "p.Gln1935Arg",
"transcript": "ENST00000399621.5",
"protein_id": "ENSP00000382530.1",
"transcript_support_level": 1,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5804,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5804,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5804A>G",
"hgvs_p": "p.Gln1935Arg",
"transcript": "ENST00000399637.5",
"protein_id": "ENSP00000382546.1",
"transcript_support_level": 1,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5804,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5804,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5804A>G",
"hgvs_p": "p.Gln1935Arg",
"transcript": "ENST00000402845.7",
"protein_id": "ENSP00000385724.3",
"transcript_support_level": 1,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5804,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5804,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5798A>G",
"hgvs_p": "p.Gln1933Arg",
"transcript": "ENST00000399629.5",
"protein_id": "ENSP00000382537.1",
"transcript_support_level": 1,
"aa_start": 1933,
"aa_end": null,
"aa_length": 2155,
"cds_start": 5798,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 5798,
"cdna_end": null,
"cdna_length": 6562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5789A>G",
"hgvs_p": "p.Gln1930Arg",
"transcript": "ENST00000682336.1",
"protein_id": "ENSP00000507898.1",
"transcript_support_level": null,
"aa_start": 1930,
"aa_end": null,
"aa_length": 2152,
"cds_start": 5789,
"cds_end": null,
"cds_length": 6459,
"cdna_start": 5789,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5771A>G",
"hgvs_p": "p.Gln1924Arg",
"transcript": "ENST00000399591.5",
"protein_id": "ENSP00000382500.1",
"transcript_support_level": 1,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2146,
"cds_start": 5771,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 5771,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5771A>G",
"hgvs_p": "p.Gln1924Arg",
"transcript": "ENST00000399595.5",
"protein_id": "ENSP00000382504.1",
"transcript_support_level": 1,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2146,
"cds_start": 5771,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 5771,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5765A>G",
"hgvs_p": "p.Gln1922Arg",
"transcript": "ENST00000399649.5",
"protein_id": "ENSP00000382557.1",
"transcript_support_level": 1,
"aa_start": 1922,
"aa_end": null,
"aa_length": 2144,
"cds_start": 5765,
"cds_end": null,
"cds_length": 6435,
"cdna_start": 5765,
"cdna_end": null,
"cdna_length": 6529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "ENST00000399597.5",
"protein_id": "ENSP00000382506.1",
"transcript_support_level": 1,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5747,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "ENST00000399601.5",
"protein_id": "ENSP00000382510.1",
"transcript_support_level": 1,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5747,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "ENST00000399641.6",
"protein_id": "ENSP00000382549.1",
"transcript_support_level": 1,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6323,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "ENST00000399644.5",
"protein_id": "ENSP00000382552.1",
"transcript_support_level": 1,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5747,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "ENST00000682835.1",
"protein_id": "ENSP00000507282.1",
"transcript_support_level": null,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6294,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5738A>G",
"hgvs_p": "p.Gln1913Arg",
"transcript": "ENST00000683482.1",
"protein_id": "ENSP00000507169.1",
"transcript_support_level": null,
"aa_start": 1913,
"aa_end": null,
"aa_length": 2135,
"cds_start": 5738,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 5866,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5714A>G",
"hgvs_p": "p.Gln1905Arg",
"transcript": "ENST00000682686.1",
"protein_id": "ENSP00000507309.1",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 2127,
"cds_start": 5714,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 5714,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5996A>G",
"hgvs_p": "p.Gln1999Arg",
"transcript": "NM_199460.4",
"protein_id": "NP_955630.3",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2221,
"cds_start": 5996,
"cds_end": null,
"cds_length": 6666,
"cdna_start": 6572,
"cdna_end": null,
"cdna_length": 13993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5927A>G",
"hgvs_p": "p.Gln1976Arg",
"transcript": "NM_001167625.2",
"protein_id": "NP_001161097.1",
"transcript_support_level": null,
"aa_start": 1976,
"aa_end": null,
"aa_length": 2198,
"cds_start": 5927,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 6503,
"cdna_end": null,
"cdna_length": 13924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5891A>G",
"hgvs_p": "p.Gln1964Arg",
"transcript": "NM_001129827.2",
"protein_id": "NP_001123299.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 2186,
"cds_start": 5891,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 6467,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5870A>G",
"hgvs_p": "p.Gln1957Arg",
"transcript": "NM_001129829.2",
"protein_id": "NP_001123301.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5870,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 6446,
"cdna_end": null,
"cdna_length": 13867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5852A>G",
"hgvs_p": "p.Gln1951Arg",
"transcript": "NM_001129830.3",
"protein_id": "NP_001123302.2",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5852,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 6428,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5852A>G",
"hgvs_p": "p.Gln1951Arg",
"transcript": "NM_001167624.3",
"protein_id": "NP_001161096.2",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5852,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 6428,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5831A>G",
"hgvs_p": "p.Gln1944Arg",
"transcript": "NM_001129831.2",
"protein_id": "NP_001123303.1",
"transcript_support_level": null,
"aa_start": 1944,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5831,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 6407,
"cdna_end": null,
"cdna_length": 13828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5807A>G",
"hgvs_p": "p.Gln1936Arg",
"transcript": "NM_001129832.2",
"protein_id": "NP_001123304.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2158,
"cds_start": 5807,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 6383,
"cdna_end": null,
"cdna_length": 13804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5804A>G",
"hgvs_p": "p.Gln1935Arg",
"transcript": "NM_001129833.2",
"protein_id": "NP_001123305.1",
"transcript_support_level": null,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5804,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 6380,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5804A>G",
"hgvs_p": "p.Gln1935Arg",
"transcript": "NM_001129834.2",
"protein_id": "NP_001123306.1",
"transcript_support_level": null,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5804,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 6380,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5804A>G",
"hgvs_p": "p.Gln1935Arg",
"transcript": "NM_001129835.2",
"protein_id": "NP_001123307.1",
"transcript_support_level": null,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5804,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 6380,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5798A>G",
"hgvs_p": "p.Gln1933Arg",
"transcript": "NM_001129836.2",
"protein_id": "NP_001123308.1",
"transcript_support_level": null,
"aa_start": 1933,
"aa_end": null,
"aa_length": 2155,
"cds_start": 5798,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 6374,
"cdna_end": null,
"cdna_length": 13795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5771A>G",
"hgvs_p": "p.Gln1924Arg",
"transcript": "NM_001129837.2",
"protein_id": "NP_001123309.1",
"transcript_support_level": null,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2146,
"cds_start": 5771,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 6347,
"cdna_end": null,
"cdna_length": 13768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5771A>G",
"hgvs_p": "p.Gln1924Arg",
"transcript": "NM_001129838.2",
"protein_id": "NP_001123310.1",
"transcript_support_level": null,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2146,
"cds_start": 5771,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 6347,
"cdna_end": null,
"cdna_length": 13768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5765A>G",
"hgvs_p": "p.Gln1922Arg",
"transcript": "NM_001129839.2",
"protein_id": "NP_001123311.1",
"transcript_support_level": null,
"aa_start": 1922,
"aa_end": null,
"aa_length": 2144,
"cds_start": 5765,
"cds_end": null,
"cds_length": 6435,
"cdna_start": 6341,
"cdna_end": null,
"cdna_length": 13762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "NM_001129840.2",
"protein_id": "NP_001123312.1",
"transcript_support_level": null,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6323,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "NM_001129841.2",
"protein_id": "NP_001123313.1",
"transcript_support_level": null,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6323,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "NM_001129842.2",
"protein_id": "NP_001123314.1",
"transcript_support_level": null,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6323,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5747A>G",
"hgvs_p": "p.Gln1916Arg",
"transcript": "NM_001129843.2",
"protein_id": "NP_001123315.1",
"transcript_support_level": null,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5747,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6323,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5738A>G",
"hgvs_p": "p.Gln1913Arg",
"transcript": "NM_001129844.2",
"protein_id": "NP_001123316.1",
"transcript_support_level": null,
"aa_start": 1913,
"aa_end": null,
"aa_length": 2135,
"cds_start": 5738,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 6314,
"cdna_end": null,
"cdna_length": 13735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5714A>G",
"hgvs_p": "p.Gln1905Arg",
"transcript": "NM_001129846.2",
"protein_id": "NP_001123318.1",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 2127,
"cds_start": 5714,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 6290,
"cdna_end": null,
"cdna_length": 13711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6569A>G",
"hgvs_p": "p.Gln2190Arg",
"transcript": "XM_017019926.3",
"protein_id": "XP_016875415.1",
"transcript_support_level": null,
"aa_start": 2190,
"aa_end": null,
"aa_length": 2412,
"cds_start": 6569,
"cds_end": null,
"cds_length": 7239,
"cdna_start": 6852,
"cdna_end": null,
"cdna_length": 14273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6464A>G",
"hgvs_p": "p.Gln2155Arg",
"transcript": "XM_017019927.3",
"protein_id": "XP_016875416.1",
"transcript_support_level": null,
"aa_start": 2155,
"aa_end": null,
"aa_length": 2377,
"cds_start": 6464,
"cds_end": null,
"cds_length": 7134,
"cdna_start": 6747,
"cdna_end": null,
"cdna_length": 14168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6407A>G",
"hgvs_p": "p.Gln2136Arg",
"transcript": "XM_047429513.1",
"protein_id": "XP_047285469.1",
"transcript_support_level": null,
"aa_start": 2136,
"aa_end": null,
"aa_length": 2358,
"cds_start": 6407,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6690,
"cdna_end": null,
"cdna_length": 14111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6251A>G",
"hgvs_p": "p.Gln2084Arg",
"transcript": "XM_017019928.3",
"protein_id": "XP_016875417.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2306,
"cds_start": 6251,
"cds_end": null,
"cds_length": 6921,
"cdna_start": 6534,
"cdna_end": null,
"cdna_length": 13955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6194A>G",
"hgvs_p": "p.Gln2065Arg",
"transcript": "XM_017019929.3",
"protein_id": "XP_016875418.1",
"transcript_support_level": null,
"aa_start": 2065,
"aa_end": null,
"aa_length": 2287,
"cds_start": 6194,
"cds_end": null,
"cds_length": 6864,
"cdna_start": 6477,
"cdna_end": null,
"cdna_length": 13898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6194A>G",
"hgvs_p": "p.Gln2065Arg",
"transcript": "XM_017019930.3",
"protein_id": "XP_016875419.1",
"transcript_support_level": null,
"aa_start": 2065,
"aa_end": null,
"aa_length": 2287,
"cds_start": 6194,
"cds_end": null,
"cds_length": 6864,
"cdna_start": 6477,
"cdna_end": null,
"cdna_length": 13898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6188A>G",
"hgvs_p": "p.Gln2063Arg",
"transcript": "XM_047429514.1",
"protein_id": "XP_047285470.1",
"transcript_support_level": null,
"aa_start": 2063,
"aa_end": null,
"aa_length": 2285,
"cds_start": 6188,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 6471,
"cdna_end": null,
"cdna_length": 13892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6110A>G",
"hgvs_p": "p.Gln2037Arg",
"transcript": "XM_017019931.3",
"protein_id": "XP_016875420.1",
"transcript_support_level": null,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2259,
"cds_start": 6110,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 6393,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6110A>G",
"hgvs_p": "p.Gln2037Arg",
"transcript": "XM_047429515.1",
"protein_id": "XP_047285471.1",
"transcript_support_level": null,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2259,
"cds_start": 6110,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 6393,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6110A>G",
"hgvs_p": "p.Gln2037Arg",
"transcript": "XM_047429516.1",
"protein_id": "XP_047285472.1",
"transcript_support_level": null,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2259,
"cds_start": 6110,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 6393,
"cdna_end": null,
"cdna_length": 13814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6095A>G",
"hgvs_p": "p.Gln2032Arg",
"transcript": "XM_017019932.3",
"protein_id": "XP_016875421.1",
"transcript_support_level": null,
"aa_start": 2032,
"aa_end": null,
"aa_length": 2254,
"cds_start": 6095,
"cds_end": null,
"cds_length": 6765,
"cdna_start": 6378,
"cdna_end": null,
"cdna_length": 13799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6077A>G",
"hgvs_p": "p.Gln2026Arg",
"transcript": "XM_047429517.1",
"protein_id": "XP_047285473.1",
"transcript_support_level": null,
"aa_start": 2026,
"aa_end": null,
"aa_length": 2248,
"cds_start": 6077,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 6360,
"cdna_end": null,
"cdna_length": 13781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6077A>G",
"hgvs_p": "p.Gln2026Arg",
"transcript": "XM_047429518.1",
"protein_id": "XP_047285474.1",
"transcript_support_level": null,
"aa_start": 2026,
"aa_end": null,
"aa_length": 2248,
"cds_start": 6077,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 6360,
"cdna_end": null,
"cdna_length": 13781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5999A>G",
"hgvs_p": "p.Gln2000Arg",
"transcript": "XM_017019933.3",
"protein_id": "XP_016875422.1",
"transcript_support_level": null,
"aa_start": 2000,
"aa_end": null,
"aa_length": 2222,
"cds_start": 5999,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 6282,
"cdna_end": null,
"cdna_length": 13703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5990A>G",
"hgvs_p": "p.Gln1997Arg",
"transcript": "XM_017019934.3",
"protein_id": "XP_016875423.1",
"transcript_support_level": null,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2219,
"cds_start": 5990,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 6273,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5990A>G",
"hgvs_p": "p.Gln1997Arg",
"transcript": "XM_017019935.3",
"protein_id": "XP_016875424.1",
"transcript_support_level": null,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2219,
"cds_start": 5990,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 6273,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5990A>G",
"hgvs_p": "p.Gln1997Arg",
"transcript": "XM_017019955.3",
"protein_id": "XP_016875444.1",
"transcript_support_level": null,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2219,
"cds_start": 5990,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 6273,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5990A>G",
"hgvs_p": "p.Gln1997Arg",
"transcript": "XM_047429519.1",
"protein_id": "XP_047285475.1",
"transcript_support_level": null,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2219,
"cds_start": 5990,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 6273,
"cdna_end": null,
"cdna_length": 13694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5966A>G",
"hgvs_p": "p.Gln1989Arg",
"transcript": "XM_017019939.3",
"protein_id": "XP_016875428.1",
"transcript_support_level": null,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2211,
"cds_start": 5966,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 6249,
"cdna_end": null,
"cdna_length": 13670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5915A>G",
"hgvs_p": "p.Gln1972Arg",
"transcript": "XM_017019943.3",
"protein_id": "XP_016875432.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5915,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 6198,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5915A>G",
"hgvs_p": "p.Gln1972Arg",
"transcript": "XM_017019944.3",
"protein_id": "XP_016875433.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5915,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 6198,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5915A>G",
"hgvs_p": "p.Gln1972Arg",
"transcript": "XM_017019945.3",
"protein_id": "XP_016875434.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5915,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 6198,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5915A>G",
"hgvs_p": "p.Gln1972Arg",
"transcript": "XM_017019946.3",
"protein_id": "XP_016875435.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5915,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 6198,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5915A>G",
"hgvs_p": "p.Gln1972Arg",
"transcript": "XM_017019947.3",
"protein_id": "XP_016875436.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5915,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 6198,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5915A>G",
"hgvs_p": "p.Gln1972Arg",
"transcript": "XM_017019948.3",
"protein_id": "XP_016875437.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5915,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 6198,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5915A>G",
"hgvs_p": "p.Gln1972Arg",
"transcript": "XM_017019949.3",
"protein_id": "XP_016875438.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5915,
"cds_end": null,
"cds_length": 6585,
"cdna_start": 6198,
"cdna_end": null,
"cdna_length": 13619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5912A>G",
"hgvs_p": "p.Gln1971Arg",
"transcript": "XM_011521020.3",
"protein_id": "XP_011519322.1",
"transcript_support_level": null,
"aa_start": 1971,
"aa_end": null,
"aa_length": 2193,
"cds_start": 5912,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 6195,
"cdna_end": null,
"cdna_length": 13616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5909A>G",
"hgvs_p": "p.Gln1970Arg",
"transcript": "XM_017019950.3",
"protein_id": "XP_016875439.1",
"transcript_support_level": null,
"aa_start": 1970,
"aa_end": null,
"aa_length": 2192,
"cds_start": 5909,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 6192,
"cdna_end": null,
"cdna_length": 13613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5837A>G",
"hgvs_p": "p.Gln1946Arg",
"transcript": "XM_006719017.3",
"protein_id": "XP_006719080.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5837,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6120,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5837A>G",
"hgvs_p": "p.Gln1946Arg",
"transcript": "XM_017019953.2",
"protein_id": "XP_016875442.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5837,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6120,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5837A>G",
"hgvs_p": "p.Gln1946Arg",
"transcript": "XM_017019954.2",
"protein_id": "XP_016875443.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5837,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6120,
"cdna_end": null,
"cdna_length": 13541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5822A>G",
"hgvs_p": "p.Gln1941Arg",
"transcript": "XM_011521023.4",
"protein_id": "XP_011519325.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 2163,
"cds_start": 5822,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 6398,
"cdna_end": null,
"cdna_length": 13819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.4910A>G",
"hgvs_p": "p.Gln1637Arg",
"transcript": "XM_047429520.1",
"protein_id": "XP_047285476.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1859,
"cds_start": 4910,
"cds_end": null,
"cds_length": 5580,
"cdna_start": 7464,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.2095A>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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.872A>G",
"hgvs_p": null,
"transcript": "ENST00000684233.1",
"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": 1730,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.2250A>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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.877A>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.294+3908T>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.904-13986T>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.423-13990T>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.430-8335T>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.203-13986T>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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.292-3620T>C",
"hgvs_p": null,
"transcript": "ENST00000839342.1",
"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": 367,
"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.409-3620T>C",
"hgvs_p": null,
"transcript": "ENST00000839343.1",
"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": 498,
"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.193-13986T>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.363+4575T>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.271+4575T>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.92+4837T>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.333+3908T>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.*41T>C",
"hgvs_p": null,
"transcript": "ENST00000715730.1",
"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": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"dbsnp": "rs186867242",
"frequency_reference_population": 0.00016859706,
"hom_count_reference_population": 0,
"allele_count_reference_population": 272,
"gnomad_exomes_af": 0.000169067,
"gnomad_genomes_af": 0.000164089,
"gnomad_exomes_ac": 247,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000034895217595476424,
"computational_prediction_selected": "Benign",
"computational_source_selected": "CardioboostArm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.15,
"revel_prediction": "Benign",
"alphamissense_score": 0.1745,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.701,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000347598.9",
"gene_symbol": "CACNA1C",
"hgnc_id": 1390,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5891A>G",
"hgvs_p": "p.Gln1964Arg"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000501371.5",
"gene_symbol": "ITFG2-AS1",
"hgnc_id": 53128,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.294+3908T>C",
"hgvs_p": null
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NR_045725.1",
"gene_symbol": "CACNA1C-AS1",
"hgnc_id": 40119,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.333+3908T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,Long QT syndrome,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Cardiovascular phenotype|Long QT syndrome|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}