Canonical Allele Identifier: CA433804119
Gene: CACNA1D HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.53835408C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801381C>A , CM000665.2:g.53801381C>A GRCh38
NC_000003.11:g.53835408C>A , CM000665.1:g.53835408C>A GRCh37
NC_000003.10:g.53810448C>A NCBI36
NG_032999.1:g.311333C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5424C>A ENSP00000418014.2:p.Ser1808=
ENST00000636633.2:n.2363C>A
ENST00000636999.2:n.799C>A
ENST00000288139.11:c.5424C>A MANE Plus Clinical ENSP00000288139.3:p.Ser1808=
ENST00000350061.11:c.5364C>A MANE Select ENSP00000288133.5:p.Ser1788=
ENST00000422281.7:c.5319C>A ENSP00000409174.2:p.Ser1773=
ENST00000636448.1:c.1485C>A
ENST00000636570.1:c.5319C>A ENSP00000490183.1:p.Ser1773=
ENST00000636629.1:n.720C>A
ENST00000636633.1:n.2363C>A
ENST00000636999.1:n.791C>A
ENST00000637424.1:c.5391C>A ENSP00000489769.1:p.Ser1797=
ENST00000637844.1:n.118C>A
ENST00000288139.8:c.5424C>A ENSP00000288139.3:p.Ser1808=
ENST00000350061.9:c.5364C>A ENSP00000288133.5:p.Ser1788=
ENST00000422281.6:c.5319C>A ENSP00000409174.2:p.Ser1773=
ENST00000481478.1:c.4443C>A ENSP00000418014.1:p.Ser1481=
NM_000720.3:c.5424C>A NP_000711.1:p.Ser1808=
NM_001128839.2:c.5319C>A NP_001122311.1:p.Ser1773=
NM_001128840.2:c.5364C>A NP_001122312.1:p.Ser1788=
XM_005265448.2:c.5319C>A XP_005265505.1:p.Ser1773=
XM_011534094.1:c.5619C>A XP_011532396.1:p.Ser1873=
XM_011534095.1:c.5508C>A XP_011532397.1:p.Ser1836=
XM_011534096.1:c.5430C>A XP_011532398.1:p.Ser1810=
XM_011534097.1:c.5082C>A XP_011532399.1:p.Ser1694=
XM_011534098.1:c.5082C>A XP_011532400.1:p.Ser1694=
XM_011534099.1:c.4707C>A XP_011532401.1:p.Ser1569=
XM_011534100.1:c.5514C>A XP_011532402.1:p.Ser1838=
XM_005265448.3:c.5319C>A XP_005265505.1:p.Ser1773=
XM_011534094.2:c.5619C>A XP_011532396.1:p.Ser1873=
XM_011534096.2:c.5430C>A XP_011532398.1:p.Ser1810=
XM_011534097.2:c.5082C>A XP_011532399.1:p.Ser1694=
XM_011534099.2:c.4707C>A XP_011532401.1:p.Ser1569=
XM_011534100.2:c.5514C>A XP_011532402.1:p.Ser1838=
XM_017007137.1:c.5619C>A XP_016862626.1:p.Ser1873=
XM_017007138.1:c.5616C>A XP_016862627.1:p.Ser1872=
XM_017007139.1:c.5619C>A XP_016862628.1:p.Ser1873=
XM_017007140.1:c.5559C>A XP_016862629.1:p.Ser1853=
XM_017007141.1:c.5559C>A XP_016862630.1:p.Ser1853=
XM_017007142.1:c.5535C>A XP_016862631.1:p.Ser1845=
XM_017007143.1:c.5535C>A XP_016862632.1:p.Ser1845=
XM_017007144.1:c.5535C>A XP_016862633.1:p.Ser1845=
XM_017007145.1:c.5490C>A XP_016862634.1:p.Ser1830=
NM_001128840.3:c.5364C>A MANE Select NP_001122312.1:p.Ser1788=
NM_000720.4:c.5424C>A MANE Plus Clinical NP_000711.1:p.Ser1808=
NM_001128839.3:c.5319C>A NP_001122311.1:p.Ser1773=