Canonical Allele Identifier: CA1365484225

Gene: CACNA1D

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801375T= , CM000665.2:g.53801375T=	GRCh38
NC_000003.11:g.53835402T= , CM000665.1:g.53835402T=	GRCh37
NC_000003.10:g.53810442T=	NCBI36
NG_032999.1:g.311327T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5418T=	ENSP00000418014.2:p.His1806=
ENST00000636633.2:n.2357T=
ENST00000636999.2:n.793T=
ENST00000288139.11:c.5418T= MANE Plus Clinical	ENSP00000288139.3:p.His1806=
ENST00000350061.11:c.5358T= MANE Select	ENSP00000288133.5:p.His1786=
ENST00000422281.7:c.5313T=	ENSP00000409174.2:p.His1771=
ENST00000636448.1:c.1479T=
ENST00000636570.1:c.5313T=	ENSP00000490183.1:p.His1771=
ENST00000636629.1:n.714T=
ENST00000636633.1:n.2357T=
ENST00000636999.1:n.785T=
ENST00000637424.1:c.5385T=	ENSP00000489769.1:p.His1795=
ENST00000637844.1:n.112T=
ENST00000288139.8:c.5418T=	ENSP00000288139.3:p.His1806=
ENST00000350061.9:c.5358T=	ENSP00000288133.5:p.His1786=
ENST00000422281.6:c.5313T=	ENSP00000409174.2:p.His1771=
ENST00000481478.1:c.4437T=	ENSP00000418014.1:p.His1479=
NM_000720.3:c.5418T=	NP_000711.1:p.His1806=
NM_001128839.2:c.5313T=	NP_001122311.1:p.His1771=
NM_001128840.2:c.5358T=	NP_001122312.1:p.His1786=
XM_005265448.2:c.5313T=	XP_005265505.1:p.His1771=
XM_011534094.1:c.5613T=	XP_011532396.1:p.His1871=
XM_011534095.1:c.5502T=	XP_011532397.1:p.His1834=
XM_011534096.1:c.5424T=	XP_011532398.1:p.His1808=
XM_011534097.1:c.5076T=	XP_011532399.1:p.His1692=
XM_011534098.1:c.5076T=	XP_011532400.1:p.His1692=
XM_011534099.1:c.4701T=	XP_011532401.1:p.His1567=
XM_011534100.1:c.5508T=	XP_011532402.1:p.His1836=
XM_005265448.3:c.5313T=	XP_005265505.1:p.His1771=
XM_011534094.2:c.5613T=	XP_011532396.1:p.His1871=
XM_011534096.2:c.5424T=	XP_011532398.1:p.His1808=
XM_011534097.2:c.5076T=	XP_011532399.1:p.His1692=
XM_011534099.2:c.4701T=	XP_011532401.1:p.His1567=
XM_011534100.2:c.5508T=	XP_011532402.1:p.His1836=
XM_017007137.1:c.5613T=	XP_016862626.1:p.His1871=
XM_017007138.1:c.5610T=	XP_016862627.1:p.His1870=
XM_017007139.1:c.5613T=	XP_016862628.1:p.His1871=
XM_017007140.1:c.5553T=	XP_016862629.1:p.His1851=
XM_017007141.1:c.5553T=	XP_016862630.1:p.His1851=
XM_017007142.1:c.5529T=	XP_016862631.1:p.His1843=
XM_017007143.1:c.5529T=	XP_016862632.1:p.His1843=
XM_017007144.1:c.5529T=	XP_016862633.1:p.His1843=
XM_017007145.1:c.5484T=	XP_016862634.1:p.His1828=
NM_001128840.3:c.5358T= MANE Select	NP_001122312.1:p.His1786=
NM_000720.4:c.5418T= MANE Plus Clinical	NP_000711.1:p.His1806=
NM_001128839.3:c.5313T=	NP_001122311.1:p.His1771=