Canonical Allele Identifier: CA353259580

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53845359A>G (hg19) ; chr3:g.53811332A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811332A>G , CM000665.2:g.53811332A>G	GRCh38
NC_000003.11:g.53845359A>G , CM000665.1:g.53845359A>G	GRCh37
NC_000003.10:g.53820399A>G	NCBI36
NG_032999.1:g.321284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6472A>G	ENSP00000418014.2:p.Ser2158Gly
ENST00000636581.2:n.1801A>G
ENST00000636633.2:n.3411A>G
ENST00000636999.2:n.1847A>G
ENST00000288139.11:c.6472A>G MANE Plus Clinical	ENSP00000288139.3:p.Ser2158Gly
ENST00000350061.11:c.6412A>G MANE Select	ENSP00000288133.5:p.Ser2138Gly
ENST00000422281.7:c.6340A>G	ENSP00000409174.2:p.Ser2114Gly
ENST00000636448.1:c.2533A>G
ENST00000636570.1:c.6367A>G	ENSP00000490183.1:p.Ser2123Gly
ENST00000636581.1:n.1801A>G
ENST00000636633.1:n.3411A>G
ENST00000636999.1:n.1839A>G
ENST00000637424.1:c.6439A>G	ENSP00000489769.1:p.Ser2147Gly
ENST00000288139.8:c.6472A>G	ENSP00000288139.3:p.Ser2158Gly
ENST00000350061.9:c.6412A>G	ENSP00000288133.5:p.Ser2138Gly
ENST00000422281.6:c.6340A>G	ENSP00000409174.2:p.Ser2114Gly
ENST00000481478.1:c.5491A>G	ENSP00000418014.1:p.Ser1831Gly
NM_000720.3:c.6472A>G	NP_000711.1:p.Ser2158Gly
NM_001128839.2:c.6340A>G	NP_001122311.1:p.Ser2114Gly
NM_001128840.2:c.6412A>G	NP_001122312.1:p.Ser2138Gly
XM_005265448.2:c.6367A>G	XP_005265505.1:p.Ser2123Gly
XM_011534094.1:c.6667A>G	XP_011532396.1:p.Ser2223Gly
XM_011534095.1:c.6556A>G	XP_011532397.1:p.Ser2186Gly
XM_011534096.1:c.6478A>G	XP_011532398.1:p.Ser2160Gly
XM_011534097.1:c.6130A>G	XP_011532399.1:p.Ser2044Gly
XM_011534098.1:c.6130A>G	XP_011532400.1:p.Ser2044Gly
XM_011534099.1:c.5755A>G	XP_011532401.1:p.Ser1919Gly
XM_011534100.1:c.6562A>G	XP_011532402.1:p.Ser2188Gly
XM_005265448.3:c.6367A>G	XP_005265505.1:p.Ser2123Gly
XM_011534094.2:c.6667A>G	XP_011532396.1:p.Ser2223Gly
XM_011534096.2:c.6478A>G	XP_011532398.1:p.Ser2160Gly
XM_011534097.2:c.6130A>G	XP_011532399.1:p.Ser2044Gly
XM_011534099.2:c.5755A>G	XP_011532401.1:p.Ser1919Gly
XM_011534100.2:c.6562A>G	XP_011532402.1:p.Ser2188Gly
XM_017007137.1:c.6667A>G	XP_016862626.1:p.Ser2223Gly
XM_017007138.1:c.6664A>G	XP_016862627.1:p.Ser2222Gly
XM_017007139.1:c.6640A>G	XP_016862628.1:p.Ser2214Gly
XM_017007140.1:c.6607A>G	XP_016862629.1:p.Ser2203Gly
XM_017007141.1:c.6607A>G	XP_016862630.1:p.Ser2203Gly
XM_017007142.1:c.6583A>G	XP_016862631.1:p.Ser2195Gly
XM_017007143.1:c.6583A>G	XP_016862632.1:p.Ser2195Gly
XM_017007144.1:c.6583A>G	XP_016862633.1:p.Ser2195Gly
XM_017007145.1:c.6538A>G	XP_016862634.1:p.Ser2180Gly
NM_001128840.3:c.6412A>G MANE Select	NP_001122312.1:p.Ser2138Gly
NM_000720.4:c.6472A>G MANE Plus Clinical	NP_000711.1:p.Ser2158Gly
NM_001128839.3:c.6340A>G	NP_001122311.1:p.Ser2114Gly