Canonical Allele Identifier: CA353249962
Gene: CACNA1D HGNC NCBI

Linked Data

ClinVar Variation Id: 1462560
ClinVar RCV Id: RCV001954291
dbSNP Id: rs1233874355
gnomAD v2: 3-53835158-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801131A>G , CM000665.2:g.53801131A>G GRCh38
NC_000003.11:g.53835158A>G , CM000665.1:g.53835158A>G GRCh37
NC_000003.10:g.53810198A>G NCBI36
NG_032999.1:g.311083A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5174A>G ENSP00000418014.2:p.Asn1725Ser
ENST00000636633.2:n.2194-81A>G
ENST00000636999.2:n.549A>G
ENST00000288139.11:c.5174A>G MANE Plus Clinical ENSP00000288139.3:p.Asn1725Ser
ENST00000350061.11:c.5114A>G MANE Select ENSP00000288133.5:p.Asn1705Ser
ENST00000422281.7:c.5069A>G ENSP00000409174.2:p.Asn1690Ser
ENST00000636448.1:c.1316-81A>G
ENST00000636570.1:c.5069A>G ENSP00000490183.1:p.Asn1690Ser
ENST00000636629.1:n.470A>G
ENST00000636633.1:n.2194-81A>G
ENST00000636999.1:n.541A>G
ENST00000637424.1:c.5141A>G ENSP00000489769.1:p.Asn1714Ser
ENST00000288139.8:c.5174A>G ENSP00000288139.3:p.Asn1725Ser
ENST00000350061.9:c.5114A>G ENSP00000288133.5:p.Asn1705Ser
ENST00000422281.6:c.5069A>G ENSP00000409174.2:p.Asn1690Ser
ENST00000481478.1:c.4193A>G ENSP00000418014.1:p.Asn1398Ser
NM_000720.3:c.5174A>G NP_000711.1:p.Asn1725Ser
NM_001128839.2:c.5069A>G NP_001122311.1:p.Asn1690Ser
NM_001128840.2:c.5114A>G NP_001122312.1:p.Asn1705Ser
XM_005265448.2:c.5069A>G XP_005265505.1:p.Asn1690Ser
XM_011534094.1:c.5369A>G XP_011532396.1:p.Asn1790Ser
XM_011534095.1:c.5258A>G XP_011532397.1:p.Asn1753Ser
XM_011534096.1:c.5180A>G XP_011532398.1:p.Asn1727Ser
XM_011534097.1:c.4832A>G XP_011532399.1:p.Asn1611Ser
XM_011534098.1:c.4832A>G XP_011532400.1:p.Asn1611Ser
XM_011534099.1:c.4457A>G XP_011532401.1:p.Asn1486Ser
XM_011534100.1:c.5264A>G XP_011532402.1:p.Asn1755Ser
XM_005265448.3:c.5069A>G XP_005265505.1:p.Asn1690Ser
XM_011534094.2:c.5369A>G XP_011532396.1:p.Asn1790Ser
XM_011534096.2:c.5180A>G XP_011532398.1:p.Asn1727Ser
XM_011534097.2:c.4832A>G XP_011532399.1:p.Asn1611Ser
XM_011534099.2:c.4457A>G XP_011532401.1:p.Asn1486Ser
XM_011534100.2:c.5264A>G XP_011532402.1:p.Asn1755Ser
XM_017007137.1:c.5369A>G XP_016862626.1:p.Asn1790Ser
XM_017007138.1:c.5366A>G XP_016862627.1:p.Asn1789Ser
XM_017007139.1:c.5369A>G XP_016862628.1:p.Asn1790Ser
XM_017007140.1:c.5309A>G XP_016862629.1:p.Asn1770Ser
XM_017007141.1:c.5309A>G XP_016862630.1:p.Asn1770Ser
XM_017007142.1:c.5285A>G XP_016862631.1:p.Asn1762Ser
XM_017007143.1:c.5285A>G XP_016862632.1:p.Asn1762Ser
XM_017007144.1:c.5285A>G XP_016862633.1:p.Asn1762Ser
XM_017007145.1:c.5240A>G XP_016862634.1:p.Asn1747Ser
NM_001128840.3:c.5114A>G MANE Select NP_001122312.1:p.Asn1705Ser
NM_000720.4:c.5174A>G MANE Plus Clinical NP_000711.1:p.Asn1725Ser
NM_001128839.3:c.5069A>G NP_001122311.1:p.Asn1690Ser