Canonical Allele Identifier: CA353250000

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835168C>A (hg19) ; chr3:g.53801141C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801141C>A , CM000665.2:g.53801141C>A	GRCh38
NC_000003.11:g.53835168C>A , CM000665.1:g.53835168C>A	GRCh37
NC_000003.10:g.53810208C>A	NCBI36
NG_032999.1:g.311093C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5184C>A	ENSP00000418014.2:p.His1728Gln
ENST00000636633.2:n.2194-71C>A
ENST00000636999.2:n.559C>A
ENST00000288139.11:c.5184C>A MANE Plus Clinical	ENSP00000288139.3:p.His1728Gln
ENST00000350061.11:c.5124C>A MANE Select	ENSP00000288133.5:p.His1708Gln
ENST00000422281.7:c.5079C>A	ENSP00000409174.2:p.His1693Gln
ENST00000636448.1:c.1316-71C>A
ENST00000636570.1:c.5079C>A	ENSP00000490183.1:p.His1693Gln
ENST00000636629.1:n.480C>A
ENST00000636633.1:n.2194-71C>A
ENST00000636999.1:n.551C>A
ENST00000637424.1:c.5151C>A	ENSP00000489769.1:p.His1717Gln
ENST00000288139.8:c.5184C>A	ENSP00000288139.3:p.His1728Gln
ENST00000350061.9:c.5124C>A	ENSP00000288133.5:p.His1708Gln
ENST00000422281.6:c.5079C>A	ENSP00000409174.2:p.His1693Gln
ENST00000481478.1:c.4203C>A	ENSP00000418014.1:p.His1401Gln
NM_000720.3:c.5184C>A	NP_000711.1:p.His1728Gln
NM_001128839.2:c.5079C>A	NP_001122311.1:p.His1693Gln
NM_001128840.2:c.5124C>A	NP_001122312.1:p.His1708Gln
XM_005265448.2:c.5079C>A	XP_005265505.1:p.His1693Gln
XM_011534094.1:c.5379C>A	XP_011532396.1:p.His1793Gln
XM_011534095.1:c.5268C>A	XP_011532397.1:p.His1756Gln
XM_011534096.1:c.5190C>A	XP_011532398.1:p.His1730Gln
XM_011534097.1:c.4842C>A	XP_011532399.1:p.His1614Gln
XM_011534098.1:c.4842C>A	XP_011532400.1:p.His1614Gln
XM_011534099.1:c.4467C>A	XP_011532401.1:p.His1489Gln
XM_011534100.1:c.5274C>A	XP_011532402.1:p.His1758Gln
XM_005265448.3:c.5079C>A	XP_005265505.1:p.His1693Gln
XM_011534094.2:c.5379C>A	XP_011532396.1:p.His1793Gln
XM_011534096.2:c.5190C>A	XP_011532398.1:p.His1730Gln
XM_011534097.2:c.4842C>A	XP_011532399.1:p.His1614Gln
XM_011534099.2:c.4467C>A	XP_011532401.1:p.His1489Gln
XM_011534100.2:c.5274C>A	XP_011532402.1:p.His1758Gln
XM_017007137.1:c.5379C>A	XP_016862626.1:p.His1793Gln
XM_017007138.1:c.5376C>A	XP_016862627.1:p.His1792Gln
XM_017007139.1:c.5379C>A	XP_016862628.1:p.His1793Gln
XM_017007140.1:c.5319C>A	XP_016862629.1:p.His1773Gln
XM_017007141.1:c.5319C>A	XP_016862630.1:p.His1773Gln
XM_017007142.1:c.5295C>A	XP_016862631.1:p.His1765Gln
XM_017007143.1:c.5295C>A	XP_016862632.1:p.His1765Gln
XM_017007144.1:c.5295C>A	XP_016862633.1:p.His1765Gln
XM_017007145.1:c.5250C>A	XP_016862634.1:p.His1750Gln
NM_001128840.3:c.5124C>A MANE Select	NP_001122312.1:p.His1708Gln
NM_000720.4:c.5184C>A MANE Plus Clinical	NP_000711.1:p.His1728Gln
NM_001128839.3:c.5079C>A	NP_001122311.1:p.His1693Gln