Canonical Allele Identifier: CA433896192
Gene: CACNA1D HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.53835355C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801328C>A , CM000665.2:g.53801328C>A GRCh38
NC_000003.11:g.53835355C>A , CM000665.1:g.53835355C>A GRCh37
NC_000003.10:g.53810395C>A NCBI36
NG_032999.1:g.311280C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5371C>A ENSP00000418014.2:p.Arg1791=
ENST00000636633.2:n.2310C>A
ENST00000636999.2:n.746C>A
ENST00000288139.11:c.5371C>A MANE Plus Clinical ENSP00000288139.3:p.Arg1791=
ENST00000350061.11:c.5311C>A MANE Select ENSP00000288133.5:p.Arg1771=
ENST00000422281.7:c.5266C>A ENSP00000409174.2:p.Arg1756=
ENST00000636448.1:c.1432C>A
ENST00000636570.1:c.5266C>A ENSP00000490183.1:p.Arg1756=
ENST00000636629.1:n.667C>A
ENST00000636633.1:n.2310C>A
ENST00000636999.1:n.738C>A
ENST00000637424.1:c.5338C>A ENSP00000489769.1:p.Arg1780=
ENST00000637844.1:n.65C>A
ENST00000288139.8:c.5371C>A ENSP00000288139.3:p.Arg1791=
ENST00000350061.9:c.5311C>A ENSP00000288133.5:p.Arg1771=
ENST00000422281.6:c.5266C>A ENSP00000409174.2:p.Arg1756=
ENST00000481478.1:c.4390C>A ENSP00000418014.1:p.Arg1464=
NM_000720.3:c.5371C>A NP_000711.1:p.Arg1791=
NM_001128839.2:c.5266C>A NP_001122311.1:p.Arg1756=
NM_001128840.2:c.5311C>A NP_001122312.1:p.Arg1771=
XM_005265448.2:c.5266C>A XP_005265505.1:p.Arg1756=
XM_011534094.1:c.5566C>A XP_011532396.1:p.Arg1856=
XM_011534095.1:c.5455C>A XP_011532397.1:p.Arg1819=
XM_011534096.1:c.5377C>A XP_011532398.1:p.Arg1793=
XM_011534097.1:c.5029C>A XP_011532399.1:p.Arg1677=
XM_011534098.1:c.5029C>A XP_011532400.1:p.Arg1677=
XM_011534099.1:c.4654C>A XP_011532401.1:p.Arg1552=
XM_011534100.1:c.5461C>A XP_011532402.1:p.Arg1821=
XM_005265448.3:c.5266C>A XP_005265505.1:p.Arg1756=
XM_011534094.2:c.5566C>A XP_011532396.1:p.Arg1856=
XM_011534096.2:c.5377C>A XP_011532398.1:p.Arg1793=
XM_011534097.2:c.5029C>A XP_011532399.1:p.Arg1677=
XM_011534099.2:c.4654C>A XP_011532401.1:p.Arg1552=
XM_011534100.2:c.5461C>A XP_011532402.1:p.Arg1821=
XM_017007137.1:c.5566C>A XP_016862626.1:p.Arg1856=
XM_017007138.1:c.5563C>A XP_016862627.1:p.Arg1855=
XM_017007139.1:c.5566C>A XP_016862628.1:p.Arg1856=
XM_017007140.1:c.5506C>A XP_016862629.1:p.Arg1836=
XM_017007141.1:c.5506C>A XP_016862630.1:p.Arg1836=
XM_017007142.1:c.5482C>A XP_016862631.1:p.Arg1828=
XM_017007143.1:c.5482C>A XP_016862632.1:p.Arg1828=
XM_017007144.1:c.5482C>A XP_016862633.1:p.Arg1828=
XM_017007145.1:c.5437C>A XP_016862634.1:p.Arg1813=
NM_001128840.3:c.5311C>A MANE Select NP_001122312.1:p.Arg1771=
NM_000720.4:c.5371C>A MANE Plus Clinical NP_000711.1:p.Arg1791=
NM_001128839.3:c.5266C>A NP_001122311.1:p.Arg1756=