Canonical Allele Identifier: CA2455098

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 747085
• ClinVar RCV Id: RCV000923761
• dbSNP Id: rs142471385
• ExAC: 3:53835354 G / A
• gnomAD v2: 3-53835354-G-A
• gnomAD v3: 3-53801327-G-A
• gnomAD v4: 3-53801327-G-A
• MyVariant Identifiers: chr3:g.53835354G>A (hg19) ; chr3:g.53801327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801327G>A , CM000665.2:g.53801327G>A	GRCh38
NC_000003.11:g.53835354G>A , CM000665.1:g.53835354G>A	GRCh37
NC_000003.10:g.53810394G>A	NCBI36
NG_032999.1:g.311279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5370G>A	ENSP00000418014.2:p.Lys1790=
ENST00000636633.2:n.2309G>A
ENST00000636999.2:n.745G>A
ENST00000288139.11:c.5370G>A MANE Plus Clinical	ENSP00000288139.3:p.Lys1790=
ENST00000350061.11:c.5310G>A MANE Select	ENSP00000288133.5:p.Lys1770=
ENST00000422281.7:c.5265G>A	ENSP00000409174.2:p.Lys1755=
ENST00000636448.1:c.1431G>A
ENST00000636570.1:c.5265G>A	ENSP00000490183.1:p.Lys1755=
ENST00000636629.1:n.666G>A
ENST00000636633.1:n.2309G>A
ENST00000636999.1:n.737G>A
ENST00000637424.1:c.5337G>A	ENSP00000489769.1:p.Lys1779=
ENST00000637844.1:n.64G>A
ENST00000288139.8:c.5370G>A	ENSP00000288139.3:p.Lys1790=
ENST00000350061.9:c.5310G>A	ENSP00000288133.5:p.Lys1770=
ENST00000422281.6:c.5265G>A	ENSP00000409174.2:p.Lys1755=
ENST00000481478.1:c.4389G>A	ENSP00000418014.1:p.Lys1463=
NM_000720.3:c.5370G>A	NP_000711.1:p.Lys1790=
NM_001128839.2:c.5265G>A	NP_001122311.1:p.Lys1755=
NM_001128840.2:c.5310G>A	NP_001122312.1:p.Lys1770=
XM_005265448.2:c.5265G>A	XP_005265505.1:p.Lys1755=
XM_011534094.1:c.5565G>A	XP_011532396.1:p.Lys1855=
XM_011534095.1:c.5454G>A	XP_011532397.1:p.Lys1818=
XM_011534096.1:c.5376G>A	XP_011532398.1:p.Lys1792=
XM_011534097.1:c.5028G>A	XP_011532399.1:p.Lys1676=
XM_011534098.1:c.5028G>A	XP_011532400.1:p.Lys1676=
XM_011534099.1:c.4653G>A	XP_011532401.1:p.Lys1551=
XM_011534100.1:c.5460G>A	XP_011532402.1:p.Lys1820=
XM_005265448.3:c.5265G>A	XP_005265505.1:p.Lys1755=
XM_011534094.2:c.5565G>A	XP_011532396.1:p.Lys1855=
XM_011534096.2:c.5376G>A	XP_011532398.1:p.Lys1792=
XM_011534097.2:c.5028G>A	XP_011532399.1:p.Lys1676=
XM_011534099.2:c.4653G>A	XP_011532401.1:p.Lys1551=
XM_011534100.2:c.5460G>A	XP_011532402.1:p.Lys1820=
XM_017007137.1:c.5565G>A	XP_016862626.1:p.Lys1855=
XM_017007138.1:c.5562G>A	XP_016862627.1:p.Lys1854=
XM_017007139.1:c.5565G>A	XP_016862628.1:p.Lys1855=
XM_017007140.1:c.5505G>A	XP_016862629.1:p.Lys1835=
XM_017007141.1:c.5505G>A	XP_016862630.1:p.Lys1835=
XM_017007142.1:c.5481G>A	XP_016862631.1:p.Lys1827=
XM_017007143.1:c.5481G>A	XP_016862632.1:p.Lys1827=
XM_017007144.1:c.5481G>A	XP_016862633.1:p.Lys1827=
XM_017007145.1:c.5436G>A	XP_016862634.1:p.Lys1812=
NM_001128840.3:c.5310G>A MANE Select	NP_001122312.1:p.Lys1770=
NM_000720.4:c.5370G>A MANE Plus Clinical	NP_000711.1:p.Lys1790=
NM_001128839.3:c.5265G>A	NP_001122311.1:p.Lys1755=