Canonical Allele Identifier: CA1365484206
Gene: CACNA1D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801329G= , CM000665.2:g.53801329G= GRCh38
NC_000003.11:g.53835356G= , CM000665.1:g.53835356G= GRCh37
NC_000003.10:g.53810396G= NCBI36
NG_032999.1:g.311281G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5372G= ENSP00000418014.2:p.Arg1791=
ENST00000636633.2:n.2311G=
ENST00000636999.2:n.747G=
ENST00000288139.11:c.5372G= MANE Plus Clinical ENSP00000288139.3:p.Arg1791=
ENST00000350061.11:c.5312G= MANE Select ENSP00000288133.5:p.Arg1771=
ENST00000422281.7:c.5267G= ENSP00000409174.2:p.Arg1756=
ENST00000636448.1:c.1433G=
ENST00000636570.1:c.5267G= ENSP00000490183.1:p.Arg1756=
ENST00000636629.1:n.668G=
ENST00000636633.1:n.2311G=
ENST00000636999.1:n.739G=
ENST00000637424.1:c.5339G= ENSP00000489769.1:p.Arg1780=
ENST00000637844.1:n.66G=
ENST00000288139.8:c.5372G= ENSP00000288139.3:p.Arg1791=
ENST00000350061.9:c.5312G= ENSP00000288133.5:p.Arg1771=
ENST00000422281.6:c.5267G= ENSP00000409174.2:p.Arg1756=
ENST00000481478.1:c.4391G= ENSP00000418014.1:p.Arg1464=
NM_000720.3:c.5372G= NP_000711.1:p.Arg1791=
NM_001128839.2:c.5267G= NP_001122311.1:p.Arg1756=
NM_001128840.2:c.5312G= NP_001122312.1:p.Arg1771=
XM_005265448.2:c.5267G= XP_005265505.1:p.Arg1756=
XM_011534094.1:c.5567G= XP_011532396.1:p.Arg1856=
XM_011534095.1:c.5456G= XP_011532397.1:p.Arg1819=
XM_011534096.1:c.5378G= XP_011532398.1:p.Arg1793=
XM_011534097.1:c.5030G= XP_011532399.1:p.Arg1677=
XM_011534098.1:c.5030G= XP_011532400.1:p.Arg1677=
XM_011534099.1:c.4655G= XP_011532401.1:p.Arg1552=
XM_011534100.1:c.5462G= XP_011532402.1:p.Arg1821=
XM_005265448.3:c.5267G= XP_005265505.1:p.Arg1756=
XM_011534094.2:c.5567G= XP_011532396.1:p.Arg1856=
XM_011534096.2:c.5378G= XP_011532398.1:p.Arg1793=
XM_011534097.2:c.5030G= XP_011532399.1:p.Arg1677=
XM_011534099.2:c.4655G= XP_011532401.1:p.Arg1552=
XM_011534100.2:c.5462G= XP_011532402.1:p.Arg1821=
XM_017007137.1:c.5567G= XP_016862626.1:p.Arg1856=
XM_017007138.1:c.5564G= XP_016862627.1:p.Arg1855=
XM_017007139.1:c.5567G= XP_016862628.1:p.Arg1856=
XM_017007140.1:c.5507G= XP_016862629.1:p.Arg1836=
XM_017007141.1:c.5507G= XP_016862630.1:p.Arg1836=
XM_017007142.1:c.5483G= XP_016862631.1:p.Arg1828=
XM_017007143.1:c.5483G= XP_016862632.1:p.Arg1828=
XM_017007144.1:c.5483G= XP_016862633.1:p.Arg1828=
XM_017007145.1:c.5438G= XP_016862634.1:p.Arg1813=
NM_001128840.3:c.5312G= MANE Select NP_001122312.1:p.Arg1771=
NM_000720.4:c.5372G= MANE Plus Clinical NP_000711.1:p.Arg1791=
NM_001128839.3:c.5267G= NP_001122311.1:p.Arg1756=