Canonical Allele Identifier: CA1365484232
Gene: CACNA1D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801410G= , CM000665.2:g.53801410G= GRCh38
NC_000003.11:g.53835437G= , CM000665.1:g.53835437G= GRCh37
NC_000003.10:g.53810477G= NCBI36
NG_032999.1:g.311362G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5453G= ENSP00000418014.2:p.Arg1818=
ENST00000636633.2:n.2392G=
ENST00000636999.2:n.828G=
ENST00000288139.11:c.5453G= MANE Plus Clinical ENSP00000288139.3:p.Arg1818=
ENST00000350061.11:c.5393G= MANE Select ENSP00000288133.5:p.Arg1798=
ENST00000422281.7:c.5348G= ENSP00000409174.2:p.Arg1783=
ENST00000636448.1:c.1514G=
ENST00000636570.1:c.5348G= ENSP00000490183.1:p.Arg1783=
ENST00000636629.1:n.749G=
ENST00000636633.1:n.2392G=
ENST00000636999.1:n.820G=
ENST00000637424.1:c.5420G= ENSP00000489769.1:p.Arg1807=
ENST00000637844.1:n.147G=
ENST00000288139.8:c.5453G= ENSP00000288139.3:p.Arg1818=
ENST00000350061.9:c.5393G= ENSP00000288133.5:p.Arg1798=
ENST00000422281.6:c.5348G= ENSP00000409174.2:p.Arg1783=
ENST00000481478.1:c.4472G= ENSP00000418014.1:p.Arg1491=
NM_000720.3:c.5453G= NP_000711.1:p.Arg1818=
NM_001128839.2:c.5348G= NP_001122311.1:p.Arg1783=
NM_001128840.2:c.5393G= NP_001122312.1:p.Arg1798=
XM_005265448.2:c.5348G= XP_005265505.1:p.Arg1783=
XM_011534094.1:c.5648G= XP_011532396.1:p.Arg1883=
XM_011534095.1:c.5537G= XP_011532397.1:p.Arg1846=
XM_011534096.1:c.5459G= XP_011532398.1:p.Arg1820=
XM_011534097.1:c.5111G= XP_011532399.1:p.Arg1704=
XM_011534098.1:c.5111G= XP_011532400.1:p.Arg1704=
XM_011534099.1:c.4736G= XP_011532401.1:p.Arg1579=
XM_011534100.1:c.5543G= XP_011532402.1:p.Arg1848=
XM_005265448.3:c.5348G= XP_005265505.1:p.Arg1783=
XM_011534094.2:c.5648G= XP_011532396.1:p.Arg1883=
XM_011534096.2:c.5459G= XP_011532398.1:p.Arg1820=
XM_011534097.2:c.5111G= XP_011532399.1:p.Arg1704=
XM_011534099.2:c.4736G= XP_011532401.1:p.Arg1579=
XM_011534100.2:c.5543G= XP_011532402.1:p.Arg1848=
XM_017007137.1:c.5648G= XP_016862626.1:p.Arg1883=
XM_017007138.1:c.5645G= XP_016862627.1:p.Arg1882=
XM_017007139.1:c.5648G= XP_016862628.1:p.Arg1883=
XM_017007140.1:c.5588G= XP_016862629.1:p.Arg1863=
XM_017007141.1:c.5588G= XP_016862630.1:p.Arg1863=
XM_017007142.1:c.5564G= XP_016862631.1:p.Arg1855=
XM_017007143.1:c.5564G= XP_016862632.1:p.Arg1855=
XM_017007144.1:c.5564G= XP_016862633.1:p.Arg1855=
XM_017007145.1:c.5519G= XP_016862634.1:p.Arg1840=
NM_001128840.3:c.5393G= MANE Select NP_001122312.1:p.Arg1798=
NM_000720.4:c.5453G= MANE Plus Clinical NP_000711.1:p.Arg1818=
NM_001128839.3:c.5348G= NP_001122311.1:p.Arg1783=