Canonical Allele Identifier: CA353259840

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53845409A>C (hg19) ; chr3:g.53811382A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811382A>C , CM000665.2:g.53811382A>C	GRCh38
NC_000003.11:g.53845409A>C , CM000665.1:g.53845409A>C	GRCh37
NC_000003.10:g.53820449A>C	NCBI36
NG_032999.1:g.321334A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6522A>C	ENSP00000418014.2:p.Glu2174Asp
ENST00000636581.2:n.1851A>C
ENST00000636633.2:n.3461A>C
ENST00000636999.2:n.1897A>C
ENST00000288139.11:c.6522A>C MANE Plus Clinical	ENSP00000288139.3:p.Glu2174Asp
ENST00000350061.11:c.6462A>C MANE Select	ENSP00000288133.5:p.Glu2154Asp
ENST00000422281.7:c.6390A>C	ENSP00000409174.2:p.Glu2130Asp
ENST00000636448.1:c.2583A>C
ENST00000636570.1:c.6417A>C	ENSP00000490183.1:p.Glu2139Asp
ENST00000636581.1:n.1851A>C
ENST00000636633.1:n.3461A>C
ENST00000636999.1:n.1889A>C
ENST00000637424.1:c.6489A>C	ENSP00000489769.1:p.Glu2163Asp
ENST00000288139.8:c.6522A>C	ENSP00000288139.3:p.Glu2174Asp
ENST00000350061.9:c.6462A>C	ENSP00000288133.5:p.Glu2154Asp
ENST00000422281.6:c.6390A>C	ENSP00000409174.2:p.Glu2130Asp
ENST00000481478.1:c.5541A>C	ENSP00000418014.1:p.Glu1847Asp
NM_000720.3:c.6522A>C	NP_000711.1:p.Glu2174Asp
NM_001128839.2:c.6390A>C	NP_001122311.1:p.Glu2130Asp
NM_001128840.2:c.6462A>C	NP_001122312.1:p.Glu2154Asp
XM_005265448.2:c.6417A>C	XP_005265505.1:p.Glu2139Asp
XM_011534094.1:c.6717A>C	XP_011532396.1:p.Glu2239Asp
XM_011534095.1:c.6606A>C	XP_011532397.1:p.Glu2202Asp
XM_011534096.1:c.6528A>C	XP_011532398.1:p.Glu2176Asp
XM_011534097.1:c.6180A>C	XP_011532399.1:p.Glu2060Asp
XM_011534098.1:c.6180A>C	XP_011532400.1:p.Glu2060Asp
XM_011534099.1:c.5805A>C	XP_011532401.1:p.Glu1935Asp
XM_011534100.1:c.6612A>C	XP_011532402.1:p.Glu2204Asp
XM_005265448.3:c.6417A>C	XP_005265505.1:p.Glu2139Asp
XM_011534094.2:c.6717A>C	XP_011532396.1:p.Glu2239Asp
XM_011534096.2:c.6528A>C	XP_011532398.1:p.Glu2176Asp
XM_011534097.2:c.6180A>C	XP_011532399.1:p.Glu2060Asp
XM_011534099.2:c.5805A>C	XP_011532401.1:p.Glu1935Asp
XM_011534100.2:c.6612A>C	XP_011532402.1:p.Glu2204Asp
XM_017007137.1:c.6717A>C	XP_016862626.1:p.Glu2239Asp
XM_017007138.1:c.6714A>C	XP_016862627.1:p.Glu2238Asp
XM_017007139.1:c.6690A>C	XP_016862628.1:p.Glu2230Asp
XM_017007140.1:c.6657A>C	XP_016862629.1:p.Glu2219Asp
XM_017007141.1:c.6657A>C	XP_016862630.1:p.Glu2219Asp
XM_017007142.1:c.6633A>C	XP_016862631.1:p.Glu2211Asp
XM_017007143.1:c.6633A>C	XP_016862632.1:p.Glu2211Asp
XM_017007144.1:c.6633A>C	XP_016862633.1:p.Glu2211Asp
XM_017007145.1:c.6588A>C	XP_016862634.1:p.Glu2196Asp
NM_001128840.3:c.6462A>C MANE Select	NP_001122312.1:p.Glu2154Asp
NM_000720.4:c.6522A>C MANE Plus Clinical	NP_000711.1:p.Glu2174Asp
NM_001128839.3:c.6390A>C	NP_001122311.1:p.Glu2130Asp