Canonical Allele Identifier: CA353259583

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53845360G>A (hg19) ; chr3:g.53811333G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811333G>A , CM000665.2:g.53811333G>A	GRCh38
NC_000003.11:g.53845360G>A , CM000665.1:g.53845360G>A	GRCh37
NC_000003.10:g.53820400G>A	NCBI36
NG_032999.1:g.321285G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6473G>A	ENSP00000418014.2:p.Ser2158Asn
ENST00000636581.2:n.1802G>A
ENST00000636633.2:n.3412G>A
ENST00000636999.2:n.1848G>A
ENST00000288139.11:c.6473G>A MANE Plus Clinical	ENSP00000288139.3:p.Ser2158Asn
ENST00000350061.11:c.6413G>A MANE Select	ENSP00000288133.5:p.Ser2138Asn
ENST00000422281.7:c.6341G>A	ENSP00000409174.2:p.Ser2114Asn
ENST00000636448.1:c.2534G>A
ENST00000636570.1:c.6368G>A	ENSP00000490183.1:p.Ser2123Asn
ENST00000636581.1:n.1802G>A
ENST00000636633.1:n.3412G>A
ENST00000636999.1:n.1840G>A
ENST00000637424.1:c.6440G>A	ENSP00000489769.1:p.Ser2147Asn
ENST00000288139.8:c.6473G>A	ENSP00000288139.3:p.Ser2158Asn
ENST00000350061.9:c.6413G>A	ENSP00000288133.5:p.Ser2138Asn
ENST00000422281.6:c.6341G>A	ENSP00000409174.2:p.Ser2114Asn
ENST00000481478.1:c.5492G>A	ENSP00000418014.1:p.Ser1831Asn
NM_000720.3:c.6473G>A	NP_000711.1:p.Ser2158Asn
NM_001128839.2:c.6341G>A	NP_001122311.1:p.Ser2114Asn
NM_001128840.2:c.6413G>A	NP_001122312.1:p.Ser2138Asn
XM_005265448.2:c.6368G>A	XP_005265505.1:p.Ser2123Asn
XM_011534094.1:c.6668G>A	XP_011532396.1:p.Ser2223Asn
XM_011534095.1:c.6557G>A	XP_011532397.1:p.Ser2186Asn
XM_011534096.1:c.6479G>A	XP_011532398.1:p.Ser2160Asn
XM_011534097.1:c.6131G>A	XP_011532399.1:p.Ser2044Asn
XM_011534098.1:c.6131G>A	XP_011532400.1:p.Ser2044Asn
XM_011534099.1:c.5756G>A	XP_011532401.1:p.Ser1919Asn
XM_011534100.1:c.6563G>A	XP_011532402.1:p.Ser2188Asn
XM_005265448.3:c.6368G>A	XP_005265505.1:p.Ser2123Asn
XM_011534094.2:c.6668G>A	XP_011532396.1:p.Ser2223Asn
XM_011534096.2:c.6479G>A	XP_011532398.1:p.Ser2160Asn
XM_011534097.2:c.6131G>A	XP_011532399.1:p.Ser2044Asn
XM_011534099.2:c.5756G>A	XP_011532401.1:p.Ser1919Asn
XM_011534100.2:c.6563G>A	XP_011532402.1:p.Ser2188Asn
XM_017007137.1:c.6668G>A	XP_016862626.1:p.Ser2223Asn
XM_017007138.1:c.6665G>A	XP_016862627.1:p.Ser2222Asn
XM_017007139.1:c.6641G>A	XP_016862628.1:p.Ser2214Asn
XM_017007140.1:c.6608G>A	XP_016862629.1:p.Ser2203Asn
XM_017007141.1:c.6608G>A	XP_016862630.1:p.Ser2203Asn
XM_017007142.1:c.6584G>A	XP_016862631.1:p.Ser2195Asn
XM_017007143.1:c.6584G>A	XP_016862632.1:p.Ser2195Asn
XM_017007144.1:c.6584G>A	XP_016862633.1:p.Ser2195Asn
XM_017007145.1:c.6539G>A	XP_016862634.1:p.Ser2180Asn
NM_001128840.3:c.6413G>A MANE Select	NP_001122312.1:p.Ser2138Asn
NM_000720.4:c.6473G>A MANE Plus Clinical	NP_000711.1:p.Ser2158Asn
NM_001128839.3:c.6341G>A	NP_001122311.1:p.Ser2114Asn