Canonical Allele Identifier: CA353259468

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53845341G>A (hg19) ; chr3:g.53811314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811314G>A , CM000665.2:g.53811314G>A	GRCh38
NC_000003.11:g.53845341G>A , CM000665.1:g.53845341G>A	GRCh37
NC_000003.10:g.53820381G>A	NCBI36
NG_032999.1:g.321266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6454G>A	ENSP00000418014.2:p.Asp2152Asn
ENST00000636581.2:n.1783G>A
ENST00000636633.2:n.3393G>A
ENST00000636999.2:n.1829G>A
ENST00000288139.11:c.6454G>A MANE Plus Clinical	ENSP00000288139.3:p.Asp2152Asn
ENST00000350061.11:c.6394G>A MANE Select	ENSP00000288133.5:p.Asp2132Asn
ENST00000422281.7:c.6322G>A	ENSP00000409174.2:p.Asp2108Asn
ENST00000636448.1:c.2515G>A
ENST00000636570.1:c.6349G>A	ENSP00000490183.1:p.Asp2117Asn
ENST00000636581.1:n.1783G>A
ENST00000636633.1:n.3393G>A
ENST00000636999.1:n.1821G>A
ENST00000637424.1:c.6421G>A	ENSP00000489769.1:p.Asp2141Asn
ENST00000288139.8:c.6454G>A	ENSP00000288139.3:p.Asp2152Asn
ENST00000350061.9:c.6394G>A	ENSP00000288133.5:p.Asp2132Asn
ENST00000422281.6:c.6322G>A	ENSP00000409174.2:p.Asp2108Asn
ENST00000481478.1:c.5473G>A	ENSP00000418014.1:p.Asp1825Asn
NM_000720.3:c.6454G>A	NP_000711.1:p.Asp2152Asn
NM_001128839.2:c.6322G>A	NP_001122311.1:p.Asp2108Asn
NM_001128840.2:c.6394G>A	NP_001122312.1:p.Asp2132Asn
XM_005265448.2:c.6349G>A	XP_005265505.1:p.Asp2117Asn
XM_011534094.1:c.6649G>A	XP_011532396.1:p.Asp2217Asn
XM_011534095.1:c.6538G>A	XP_011532397.1:p.Asp2180Asn
XM_011534096.1:c.6460G>A	XP_011532398.1:p.Asp2154Asn
XM_011534097.1:c.6112G>A	XP_011532399.1:p.Asp2038Asn
XM_011534098.1:c.6112G>A	XP_011532400.1:p.Asp2038Asn
XM_011534099.1:c.5737G>A	XP_011532401.1:p.Asp1913Asn
XM_011534100.1:c.6544G>A	XP_011532402.1:p.Asp2182Asn
XM_005265448.3:c.6349G>A	XP_005265505.1:p.Asp2117Asn
XM_011534094.2:c.6649G>A	XP_011532396.1:p.Asp2217Asn
XM_011534096.2:c.6460G>A	XP_011532398.1:p.Asp2154Asn
XM_011534097.2:c.6112G>A	XP_011532399.1:p.Asp2038Asn
XM_011534099.2:c.5737G>A	XP_011532401.1:p.Asp1913Asn
XM_011534100.2:c.6544G>A	XP_011532402.1:p.Asp2182Asn
XM_017007137.1:c.6649G>A	XP_016862626.1:p.Asp2217Asn
XM_017007138.1:c.6646G>A	XP_016862627.1:p.Asp2216Asn
XM_017007139.1:c.6622G>A	XP_016862628.1:p.Asp2208Asn
XM_017007140.1:c.6589G>A	XP_016862629.1:p.Asp2197Asn
XM_017007141.1:c.6589G>A	XP_016862630.1:p.Asp2197Asn
XM_017007142.1:c.6565G>A	XP_016862631.1:p.Asp2189Asn
XM_017007143.1:c.6565G>A	XP_016862632.1:p.Asp2189Asn
XM_017007144.1:c.6565G>A	XP_016862633.1:p.Asp2189Asn
XM_017007145.1:c.6520G>A	XP_016862634.1:p.Asp2174Asn
NM_001128840.3:c.6394G>A MANE Select	NP_001122312.1:p.Asp2132Asn
NM_000720.4:c.6454G>A MANE Plus Clinical	NP_000711.1:p.Asp2152Asn
NM_001128839.3:c.6322G>A	NP_001122311.1:p.Asp2108Asn