Canonical Allele Identifier: CA353250488

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 1519638
• ClinVar RCV Id: RCV002024730
• dbSNP Id: rs2106778911
• MyVariant Identifiers: chr3:g.53835238G>T (hg19) ; chr3:g.53801211G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801211G>T , CM000665.2:g.53801211G>T	GRCh38
NC_000003.11:g.53835238G>T , CM000665.1:g.53835238G>T	GRCh37
NC_000003.10:g.53810278G>T	NCBI36
NG_032999.1:g.311163G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5254G>T	ENSP00000418014.2:p.Ala1752Ser
ENST00000636633.2:n.2194-1G>T
ENST00000636999.2:n.629G>T
ENST00000288139.11:c.5254G>T MANE Plus Clinical	ENSP00000288139.3:p.Ala1752Ser
ENST00000350061.11:c.5194G>T MANE Select	ENSP00000288133.5:p.Ala1732Ser
ENST00000422281.7:c.5149G>T	ENSP00000409174.2:p.Ala1717Ser
ENST00000636448.1:c.1316-1G>T
ENST00000636570.1:c.5149G>T	ENSP00000490183.1:p.Ala1717Ser
ENST00000636629.1:n.550G>T
ENST00000636633.1:n.2194-1G>T
ENST00000636999.1:n.621G>T
ENST00000637424.1:c.5221G>T	ENSP00000489769.1:p.Ala1741Ser
ENST00000288139.8:c.5254G>T	ENSP00000288139.3:p.Ala1752Ser
ENST00000350061.9:c.5194G>T	ENSP00000288133.5:p.Ala1732Ser
ENST00000422281.6:c.5149G>T	ENSP00000409174.2:p.Ala1717Ser
ENST00000481478.1:c.4273G>T	ENSP00000418014.1:p.Ala1425Ser
NM_000720.3:c.5254G>T	NP_000711.1:p.Ala1752Ser
NM_001128839.2:c.5149G>T	NP_001122311.1:p.Ala1717Ser
NM_001128840.2:c.5194G>T	NP_001122312.1:p.Ala1732Ser
XM_005265448.2:c.5149G>T	XP_005265505.1:p.Ala1717Ser
XM_011534094.1:c.5449G>T	XP_011532396.1:p.Ala1817Ser
XM_011534095.1:c.5338G>T	XP_011532397.1:p.Ala1780Ser
XM_011534096.1:c.5260G>T	XP_011532398.1:p.Ala1754Ser
XM_011534097.1:c.4912G>T	XP_011532399.1:p.Ala1638Ser
XM_011534098.1:c.4912G>T	XP_011532400.1:p.Ala1638Ser
XM_011534099.1:c.4537G>T	XP_011532401.1:p.Ala1513Ser
XM_011534100.1:c.5344G>T	XP_011532402.1:p.Ala1782Ser
XM_005265448.3:c.5149G>T	XP_005265505.1:p.Ala1717Ser
XM_011534094.2:c.5449G>T	XP_011532396.1:p.Ala1817Ser
XM_011534096.2:c.5260G>T	XP_011532398.1:p.Ala1754Ser
XM_011534097.2:c.4912G>T	XP_011532399.1:p.Ala1638Ser
XM_011534099.2:c.4537G>T	XP_011532401.1:p.Ala1513Ser
XM_011534100.2:c.5344G>T	XP_011532402.1:p.Ala1782Ser
XM_017007137.1:c.5449G>T	XP_016862626.1:p.Ala1817Ser
XM_017007138.1:c.5446G>T	XP_016862627.1:p.Ala1816Ser
XM_017007139.1:c.5449G>T	XP_016862628.1:p.Ala1817Ser
XM_017007140.1:c.5389G>T	XP_016862629.1:p.Ala1797Ser
XM_017007141.1:c.5389G>T	XP_016862630.1:p.Ala1797Ser
XM_017007142.1:c.5365G>T	XP_016862631.1:p.Ala1789Ser
XM_017007143.1:c.5365G>T	XP_016862632.1:p.Ala1789Ser
XM_017007144.1:c.5365G>T	XP_016862633.1:p.Ala1789Ser
XM_017007145.1:c.5320G>T	XP_016862634.1:p.Ala1774Ser
NM_001128840.3:c.5194G>T MANE Select	NP_001122312.1:p.Ala1732Ser
NM_000720.4:c.5254G>T MANE Plus Clinical	NP_000711.1:p.Ala1752Ser
NM_001128839.3:c.5149G>T	NP_001122311.1:p.Ala1717Ser