Canonical Allele Identifier: CA353259497

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53845345T>G (hg19) ; chr3:g.53811318T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811318T>G , CM000665.2:g.53811318T>G	GRCh38
NC_000003.11:g.53845345T>G , CM000665.1:g.53845345T>G	GRCh37
NC_000003.10:g.53820385T>G	NCBI36
NG_032999.1:g.321270T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6458T>G	ENSP00000418014.2:p.Phe2153Cys
ENST00000636581.2:n.1787T>G
ENST00000636633.2:n.3397T>G
ENST00000636999.2:n.1833T>G
ENST00000288139.11:c.6458T>G MANE Plus Clinical	ENSP00000288139.3:p.Phe2153Cys
ENST00000350061.11:c.6398T>G MANE Select	ENSP00000288133.5:p.Phe2133Cys
ENST00000422281.7:c.6326T>G	ENSP00000409174.2:p.Phe2109Cys
ENST00000636448.1:c.2519T>G
ENST00000636570.1:c.6353T>G	ENSP00000490183.1:p.Phe2118Cys
ENST00000636581.1:n.1787T>G
ENST00000636633.1:n.3397T>G
ENST00000636999.1:n.1825T>G
ENST00000637424.1:c.6425T>G	ENSP00000489769.1:p.Phe2142Cys
ENST00000288139.8:c.6458T>G	ENSP00000288139.3:p.Phe2153Cys
ENST00000350061.9:c.6398T>G	ENSP00000288133.5:p.Phe2133Cys
ENST00000422281.6:c.6326T>G	ENSP00000409174.2:p.Phe2109Cys
ENST00000481478.1:c.5477T>G	ENSP00000418014.1:p.Phe1826Cys
NM_000720.3:c.6458T>G	NP_000711.1:p.Phe2153Cys
NM_001128839.2:c.6326T>G	NP_001122311.1:p.Phe2109Cys
NM_001128840.2:c.6398T>G	NP_001122312.1:p.Phe2133Cys
XM_005265448.2:c.6353T>G	XP_005265505.1:p.Phe2118Cys
XM_011534094.1:c.6653T>G	XP_011532396.1:p.Phe2218Cys
XM_011534095.1:c.6542T>G	XP_011532397.1:p.Phe2181Cys
XM_011534096.1:c.6464T>G	XP_011532398.1:p.Phe2155Cys
XM_011534097.1:c.6116T>G	XP_011532399.1:p.Phe2039Cys
XM_011534098.1:c.6116T>G	XP_011532400.1:p.Phe2039Cys
XM_011534099.1:c.5741T>G	XP_011532401.1:p.Phe1914Cys
XM_011534100.1:c.6548T>G	XP_011532402.1:p.Phe2183Cys
XM_005265448.3:c.6353T>G	XP_005265505.1:p.Phe2118Cys
XM_011534094.2:c.6653T>G	XP_011532396.1:p.Phe2218Cys
XM_011534096.2:c.6464T>G	XP_011532398.1:p.Phe2155Cys
XM_011534097.2:c.6116T>G	XP_011532399.1:p.Phe2039Cys
XM_011534099.2:c.5741T>G	XP_011532401.1:p.Phe1914Cys
XM_011534100.2:c.6548T>G	XP_011532402.1:p.Phe2183Cys
XM_017007137.1:c.6653T>G	XP_016862626.1:p.Phe2218Cys
XM_017007138.1:c.6650T>G	XP_016862627.1:p.Phe2217Cys
XM_017007139.1:c.6626T>G	XP_016862628.1:p.Phe2209Cys
XM_017007140.1:c.6593T>G	XP_016862629.1:p.Phe2198Cys
XM_017007141.1:c.6593T>G	XP_016862630.1:p.Phe2198Cys
XM_017007142.1:c.6569T>G	XP_016862631.1:p.Phe2190Cys
XM_017007143.1:c.6569T>G	XP_016862632.1:p.Phe2190Cys
XM_017007144.1:c.6569T>G	XP_016862633.1:p.Phe2190Cys
XM_017007145.1:c.6524T>G	XP_016862634.1:p.Phe2175Cys
NM_001128840.3:c.6398T>G MANE Select	NP_001122312.1:p.Phe2133Cys
NM_000720.4:c.6458T>G MANE Plus Clinical	NP_000711.1:p.Phe2153Cys
NM_001128839.3:c.6326T>G	NP_001122311.1:p.Phe2109Cys