Canonical Allele Identifier: CA74859874

Gene: CACNA1D

Linked Data

• dbSNP Id: rs550815512
• gnomAD v3: 3-53801265-G-T
• gnomAD v4: 3-53801265-G-T
• MyVariant Identifiers: chr3:g.53835292G>T (hg19) ; chr3:g.53801265G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801265G>T , CM000665.2:g.53801265G>T	GRCh38
NC_000003.11:g.53835292G>T , CM000665.1:g.53835292G>T	GRCh37
NC_000003.10:g.53810332G>T	NCBI36
NG_032999.1:g.311217G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5308G>T	ENSP00000418014.2:p.Val1770Phe
ENST00000636633.2:n.2247G>T
ENST00000636999.2:n.683G>T
ENST00000288139.11:c.5308G>T MANE Plus Clinical	ENSP00000288139.3:p.Val1770Phe
ENST00000350061.11:c.5248G>T MANE Select	ENSP00000288133.5:p.Val1750Phe
ENST00000422281.7:c.5203G>T	ENSP00000409174.2:p.Val1735Phe
ENST00000636448.1:c.1369G>T
ENST00000636570.1:c.5203G>T	ENSP00000490183.1:p.Val1735Phe
ENST00000636629.1:n.604G>T
ENST00000636633.1:n.2247G>T
ENST00000636999.1:n.675G>T
ENST00000637424.1:c.5275G>T	ENSP00000489769.1:p.Val1759Phe
ENST00000637844.1:n.2G>T
ENST00000288139.8:c.5308G>T	ENSP00000288139.3:p.Val1770Phe
ENST00000350061.9:c.5248G>T	ENSP00000288133.5:p.Val1750Phe
ENST00000422281.6:c.5203G>T	ENSP00000409174.2:p.Val1735Phe
ENST00000481478.1:c.4327G>T	ENSP00000418014.1:p.Val1443Phe
NM_000720.3:c.5308G>T	NP_000711.1:p.Val1770Phe
NM_001128839.2:c.5203G>T	NP_001122311.1:p.Val1735Phe
NM_001128840.2:c.5248G>T	NP_001122312.1:p.Val1750Phe
XM_005265448.2:c.5203G>T	XP_005265505.1:p.Val1735Phe
XM_011534094.1:c.5503G>T	XP_011532396.1:p.Val1835Phe
XM_011534095.1:c.5392G>T	XP_011532397.1:p.Val1798Phe
XM_011534096.1:c.5314G>T	XP_011532398.1:p.Val1772Phe
XM_011534097.1:c.4966G>T	XP_011532399.1:p.Val1656Phe
XM_011534098.1:c.4966G>T	XP_011532400.1:p.Val1656Phe
XM_011534099.1:c.4591G>T	XP_011532401.1:p.Val1531Phe
XM_011534100.1:c.5398G>T	XP_011532402.1:p.Val1800Phe
XM_005265448.3:c.5203G>T	XP_005265505.1:p.Val1735Phe
XM_011534094.2:c.5503G>T	XP_011532396.1:p.Val1835Phe
XM_011534096.2:c.5314G>T	XP_011532398.1:p.Val1772Phe
XM_011534097.2:c.4966G>T	XP_011532399.1:p.Val1656Phe
XM_011534099.2:c.4591G>T	XP_011532401.1:p.Val1531Phe
XM_011534100.2:c.5398G>T	XP_011532402.1:p.Val1800Phe
XM_017007137.1:c.5503G>T	XP_016862626.1:p.Val1835Phe
XM_017007138.1:c.5500G>T	XP_016862627.1:p.Val1834Phe
XM_017007139.1:c.5503G>T	XP_016862628.1:p.Val1835Phe
XM_017007140.1:c.5443G>T	XP_016862629.1:p.Val1815Phe
XM_017007141.1:c.5443G>T	XP_016862630.1:p.Val1815Phe
XM_017007142.1:c.5419G>T	XP_016862631.1:p.Val1807Phe
XM_017007143.1:c.5419G>T	XP_016862632.1:p.Val1807Phe
XM_017007144.1:c.5419G>T	XP_016862633.1:p.Val1807Phe
XM_017007145.1:c.5374G>T	XP_016862634.1:p.Val1792Phe
NM_001128840.3:c.5248G>T MANE Select	NP_001122312.1:p.Val1750Phe
NM_000720.4:c.5308G>T MANE Plus Clinical	NP_000711.1:p.Val1770Phe
NM_001128839.3:c.5203G>T	NP_001122311.1:p.Val1735Phe