Canonical Allele Identifier: CA433804115

Gene: CACNA1D

Linked Data

• dbSNP Id: rs2095534998
• gnomAD v4: 3-53801378-T-C
• MyVariant Identifiers: chr3:g.53835405T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801378T>C , CM000665.2:g.53801378T>C	GRCh38
NC_000003.11:g.53835405T>C , CM000665.1:g.53835405T>C	GRCh37
NC_000003.10:g.53810445T>C	NCBI36
NG_032999.1:g.311330T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5421T>C	ENSP00000418014.2:p.Ser1807=
ENST00000636633.2:n.2360T>C
ENST00000636999.2:n.796T>C
ENST00000288139.11:c.5421T>C MANE Plus Clinical	ENSP00000288139.3:p.Ser1807=
ENST00000350061.11:c.5361T>C MANE Select	ENSP00000288133.5:p.Ser1787=
ENST00000422281.7:c.5316T>C	ENSP00000409174.2:p.Ser1772=
ENST00000636448.1:c.1482T>C
ENST00000636570.1:c.5316T>C	ENSP00000490183.1:p.Ser1772=
ENST00000636629.1:n.717T>C
ENST00000636633.1:n.2360T>C
ENST00000636999.1:n.788T>C
ENST00000637424.1:c.5388T>C	ENSP00000489769.1:p.Ser1796=
ENST00000637844.1:n.115T>C
ENST00000288139.8:c.5421T>C	ENSP00000288139.3:p.Ser1807=
ENST00000350061.9:c.5361T>C	ENSP00000288133.5:p.Ser1787=
ENST00000422281.6:c.5316T>C	ENSP00000409174.2:p.Ser1772=
ENST00000481478.1:c.4440T>C	ENSP00000418014.1:p.Ser1480=
NM_000720.3:c.5421T>C	NP_000711.1:p.Ser1807=
NM_001128839.2:c.5316T>C	NP_001122311.1:p.Ser1772=
NM_001128840.2:c.5361T>C	NP_001122312.1:p.Ser1787=
XM_005265448.2:c.5316T>C	XP_005265505.1:p.Ser1772=
XM_011534094.1:c.5616T>C	XP_011532396.1:p.Ser1872=
XM_011534095.1:c.5505T>C	XP_011532397.1:p.Ser1835=
XM_011534096.1:c.5427T>C	XP_011532398.1:p.Ser1809=
XM_011534097.1:c.5079T>C	XP_011532399.1:p.Ser1693=
XM_011534098.1:c.5079T>C	XP_011532400.1:p.Ser1693=
XM_011534099.1:c.4704T>C	XP_011532401.1:p.Ser1568=
XM_011534100.1:c.5511T>C	XP_011532402.1:p.Ser1837=
XM_005265448.3:c.5316T>C	XP_005265505.1:p.Ser1772=
XM_011534094.2:c.5616T>C	XP_011532396.1:p.Ser1872=
XM_011534096.2:c.5427T>C	XP_011532398.1:p.Ser1809=
XM_011534097.2:c.5079T>C	XP_011532399.1:p.Ser1693=
XM_011534099.2:c.4704T>C	XP_011532401.1:p.Ser1568=
XM_011534100.2:c.5511T>C	XP_011532402.1:p.Ser1837=
XM_017007137.1:c.5616T>C	XP_016862626.1:p.Ser1872=
XM_017007138.1:c.5613T>C	XP_016862627.1:p.Ser1871=
XM_017007139.1:c.5616T>C	XP_016862628.1:p.Ser1872=
XM_017007140.1:c.5556T>C	XP_016862629.1:p.Ser1852=
XM_017007141.1:c.5556T>C	XP_016862630.1:p.Ser1852=
XM_017007142.1:c.5532T>C	XP_016862631.1:p.Ser1844=
XM_017007143.1:c.5532T>C	XP_016862632.1:p.Ser1844=
XM_017007144.1:c.5532T>C	XP_016862633.1:p.Ser1844=
XM_017007145.1:c.5487T>C	XP_016862634.1:p.Ser1829=
NM_001128840.3:c.5361T>C MANE Select	NP_001122312.1:p.Ser1787=
NM_000720.4:c.5421T>C MANE Plus Clinical	NP_000711.1:p.Ser1807=
NM_001128839.3:c.5316T>C	NP_001122311.1:p.Ser1772=