Canonical Allele Identifier: CA144864

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 66072
• ClinVar RCV Id: RCV000056307 ; RCV000122469
• dbSNP Id: rs386834264
• MyVariant Identifiers: chr3:g.53707831G>A (hg19) ; chr3:g.53673804G>A (hg38)
• PubMed: PMID:23913001

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53673804G>A , CM000665.2:g.53673804G>A	GRCh38
NC_000003.11:g.53707831G>A , CM000665.1:g.53707831G>A	GRCh37
NC_000003.10:g.53682871G>A	NCBI36
NG_032999.1:g.183756G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000481478.2:c.1220+678G>A	ENSP00000418014.2:n.1220+678G>A
ENST00000636627.2:c.1208G>A	ENSP00000490889.2:p.Gly403Asp
ENST00000288139.11:c.1208G>A MANE Plus Clinical	ENSP00000288139.3:p.Gly403Asp
ENST00000350061.11:c.1220+678G>A MANE Select	ENSP00000288133.5:n.1220+678G>A
ENST00000422281.7:c.1220+678G>A	ENSP00000409174.2:n.1220+678G>A
ENST00000498251.2:n.66+678G>A
ENST00000636570.1:c.1208G>A	ENSP00000490183.1:p.Gly403Asp
ENST00000636627.1:c.448G>A
ENST00000636938.1:c.1208G>A	ENSP00000490039.1:p.Gly403Asp
ENST00000637424.1:c.1280G>A	ENSP00000489769.1:p.Gly427Asp
ENST00000640483.1:c.1181G>A	ENSP00000491921.1:p.Gly394Asp
ENST00000288139.8:c.1208G>A	ENSP00000288139.3:p.Gly403Asp
ENST00000350061.9:c.1220+678G>A	ENSP00000288133.5:n.1220+678G>A
ENST00000422281.6:c.1220+678G>A	ENSP00000409174.2:n.1220+678G>A
ENST00000464429.1:n.250G>A
ENST00000481085.5:c.265G>A
ENST00000481478.1:c.239+678G>A	ENSP00000418014.1:n.239+678G>A
ENST00000498251.1:n.66+678G>A
NM_000720.3:c.1208G>A	NP_000711.1:p.Gly403Asp
NM_001128839.2:c.1220+678G>A	NP_001122311.1:n.1220+678G>A
NM_001128840.2:c.1220+678G>A	NP_001122312.1:n.1220+678G>A
XM_005265448.2:c.1208G>A	XP_005265505.1:p.Gly403Asp
XM_011534094.1:c.1331+678G>A	XP_011532396.1:n.1331+678G>A
XM_011534095.1:c.1208G>A	XP_011532397.1:p.Gly403Asp
XM_011534096.1:c.1319G>A	XP_011532398.1:p.Gly440Asp
XM_011534097.1:c.782G>A	XP_011532399.1:p.Gly261Asp
XM_011534098.1:c.782G>A	XP_011532400.1:p.Gly261Asp
XM_011534099.1:c.407G>A	XP_011532401.1:p.Gly136Asp
XM_011534100.1:c.1319G>A	XP_011532402.1:p.Gly440Asp
XM_005265448.3:c.1208G>A	XP_005265505.1:p.Gly403Asp
XM_011534094.2:c.1331+678G>A	XP_011532396.1:n.1331+678G>A
XM_011534096.2:c.1319G>A	XP_011532398.1:p.Gly440Asp
XM_011534097.2:c.782G>A	XP_011532399.1:p.Gly261Asp
XM_011534099.2:c.407G>A	XP_011532401.1:p.Gly136Asp
XM_011534100.2:c.1319G>A	XP_011532402.1:p.Gly440Asp
XM_017007137.1:c.1319G>A	XP_016862626.1:p.Gly440Asp
XM_017007138.1:c.1319G>A	XP_016862627.1:p.Gly440Asp
XM_017007139.1:c.1319G>A	XP_016862628.1:p.Gly440Asp
XM_017007140.1:c.1319G>A	XP_016862629.1:p.Gly440Asp
XM_017007141.1:c.1331+678G>A	XP_016862630.1:n.1331+678G>A
XM_017007142.1:c.1319G>A	XP_016862631.1:p.Gly440Asp
XM_017007143.1:c.1319G>A	XP_016862632.1:p.Gly440Asp
XM_017007144.1:c.1331+678G>A	XP_016862633.1:n.1331+678G>A
XM_017007145.1:c.1319G>A	XP_016862634.1:p.Gly440Asp
NM_001128840.3:c.1220+678G>A MANE Select	NP_001122312.1:n.1220+678G>A
NM_000720.4:c.1208G>A MANE Plus Clinical	NP_000711.1:p.Gly403Asp
NM_001128839.3:c.1220+678G>A	NP_001122311.1:n.1220+678G>A