Canonical Allele Identifier: CA1365484172
Gene: CACNA1D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801230A= , CM000665.2:g.53801230A= GRCh38
NC_000003.11:g.53835257A= , CM000665.1:g.53835257A= GRCh37
NC_000003.10:g.53810297A= NCBI36
NG_032999.1:g.311182A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5273A= ENSP00000418014.2:p.His1758=
ENST00000636633.2:n.2212A=
ENST00000636999.2:n.648A=
ENST00000288139.11:c.5273A= MANE Plus Clinical ENSP00000288139.3:p.His1758=
ENST00000350061.11:c.5213A= MANE Select ENSP00000288133.5:p.His1738=
ENST00000422281.7:c.5168A= ENSP00000409174.2:p.His1723=
ENST00000636448.1:c.1334A=
ENST00000636570.1:c.5168A= ENSP00000490183.1:p.His1723=
ENST00000636629.1:n.569A=
ENST00000636633.1:n.2212A=
ENST00000636999.1:n.640A=
ENST00000637424.1:c.5240A= ENSP00000489769.1:p.His1747=
ENST00000288139.8:c.5273A= ENSP00000288139.3:p.His1758=
ENST00000350061.9:c.5213A= ENSP00000288133.5:p.His1738=
ENST00000422281.6:c.5168A= ENSP00000409174.2:p.His1723=
ENST00000481478.1:c.4292A= ENSP00000418014.1:p.His1431=
NM_000720.3:c.5273A= NP_000711.1:p.His1758=
NM_001128839.2:c.5168A= NP_001122311.1:p.His1723=
NM_001128840.2:c.5213A= NP_001122312.1:p.His1738=
XM_005265448.2:c.5168A= XP_005265505.1:p.His1723=
XM_011534094.1:c.5468A= XP_011532396.1:p.His1823=
XM_011534095.1:c.5357A= XP_011532397.1:p.His1786=
XM_011534096.1:c.5279A= XP_011532398.1:p.His1760=
XM_011534097.1:c.4931A= XP_011532399.1:p.His1644=
XM_011534098.1:c.4931A= XP_011532400.1:p.His1644=
XM_011534099.1:c.4556A= XP_011532401.1:p.His1519=
XM_011534100.1:c.5363A= XP_011532402.1:p.His1788=
XM_005265448.3:c.5168A= XP_005265505.1:p.His1723=
XM_011534094.2:c.5468A= XP_011532396.1:p.His1823=
XM_011534096.2:c.5279A= XP_011532398.1:p.His1760=
XM_011534097.2:c.4931A= XP_011532399.1:p.His1644=
XM_011534099.2:c.4556A= XP_011532401.1:p.His1519=
XM_011534100.2:c.5363A= XP_011532402.1:p.His1788=
XM_017007137.1:c.5468A= XP_016862626.1:p.His1823=
XM_017007138.1:c.5465A= XP_016862627.1:p.His1822=
XM_017007139.1:c.5468A= XP_016862628.1:p.His1823=
XM_017007140.1:c.5408A= XP_016862629.1:p.His1803=
XM_017007141.1:c.5408A= XP_016862630.1:p.His1803=
XM_017007142.1:c.5384A= XP_016862631.1:p.His1795=
XM_017007143.1:c.5384A= XP_016862632.1:p.His1795=
XM_017007144.1:c.5384A= XP_016862633.1:p.His1795=
XM_017007145.1:c.5339A= XP_016862634.1:p.His1780=
NM_001128840.3:c.5213A= MANE Select NP_001122312.1:p.His1738=
NM_000720.4:c.5273A= MANE Plus Clinical NP_000711.1:p.His1758=
NM_001128839.3:c.5168A= NP_001122311.1:p.His1723=