Canonical Allele Identifier: CA353250554

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 3027464
• ClinVar RCV Id: RCV003886326
• dbSNP Id: rs1416266402
• gnomAD v2: 3-53835247-T-G
• gnomAD v4: 3-53801220-T-G
• MyVariant Identifiers: chr3:g.53835247T>G (hg19) ; chr3:g.53801220T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801220T>G , CM000665.2:g.53801220T>G	GRCh38
NC_000003.11:g.53835247T>G , CM000665.1:g.53835247T>G	GRCh37
NC_000003.10:g.53810287T>G	NCBI36
NG_032999.1:g.311172T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5263T>G	ENSP00000418014.2:p.Ser1755Ala
ENST00000636633.2:n.2202T>G
ENST00000636999.2:n.638T>G
ENST00000288139.11:c.5263T>G MANE Plus Clinical	ENSP00000288139.3:p.Ser1755Ala
ENST00000350061.11:c.5203T>G MANE Select	ENSP00000288133.5:p.Ser1735Ala
ENST00000422281.7:c.5158T>G	ENSP00000409174.2:p.Ser1720Ala
ENST00000636448.1:c.1324T>G
ENST00000636570.1:c.5158T>G	ENSP00000490183.1:p.Ser1720Ala
ENST00000636629.1:n.559T>G
ENST00000636633.1:n.2202T>G
ENST00000636999.1:n.630T>G
ENST00000637424.1:c.5230T>G	ENSP00000489769.1:p.Ser1744Ala
ENST00000288139.8:c.5263T>G	ENSP00000288139.3:p.Ser1755Ala
ENST00000350061.9:c.5203T>G	ENSP00000288133.5:p.Ser1735Ala
ENST00000422281.6:c.5158T>G	ENSP00000409174.2:p.Ser1720Ala
ENST00000481478.1:c.4282T>G	ENSP00000418014.1:p.Ser1428Ala
NM_000720.3:c.5263T>G	NP_000711.1:p.Ser1755Ala
NM_001128839.2:c.5158T>G	NP_001122311.1:p.Ser1720Ala
NM_001128840.2:c.5203T>G	NP_001122312.1:p.Ser1735Ala
XM_005265448.2:c.5158T>G	XP_005265505.1:p.Ser1720Ala
XM_011534094.1:c.5458T>G	XP_011532396.1:p.Ser1820Ala
XM_011534095.1:c.5347T>G	XP_011532397.1:p.Ser1783Ala
XM_011534096.1:c.5269T>G	XP_011532398.1:p.Ser1757Ala
XM_011534097.1:c.4921T>G	XP_011532399.1:p.Ser1641Ala
XM_011534098.1:c.4921T>G	XP_011532400.1:p.Ser1641Ala
XM_011534099.1:c.4546T>G	XP_011532401.1:p.Ser1516Ala
XM_011534100.1:c.5353T>G	XP_011532402.1:p.Ser1785Ala
XM_005265448.3:c.5158T>G	XP_005265505.1:p.Ser1720Ala
XM_011534094.2:c.5458T>G	XP_011532396.1:p.Ser1820Ala
XM_011534096.2:c.5269T>G	XP_011532398.1:p.Ser1757Ala
XM_011534097.2:c.4921T>G	XP_011532399.1:p.Ser1641Ala
XM_011534099.2:c.4546T>G	XP_011532401.1:p.Ser1516Ala
XM_011534100.2:c.5353T>G	XP_011532402.1:p.Ser1785Ala
XM_017007137.1:c.5458T>G	XP_016862626.1:p.Ser1820Ala
XM_017007138.1:c.5455T>G	XP_016862627.1:p.Ser1819Ala
XM_017007139.1:c.5458T>G	XP_016862628.1:p.Ser1820Ala
XM_017007140.1:c.5398T>G	XP_016862629.1:p.Ser1800Ala
XM_017007141.1:c.5398T>G	XP_016862630.1:p.Ser1800Ala
XM_017007142.1:c.5374T>G	XP_016862631.1:p.Ser1792Ala
XM_017007143.1:c.5374T>G	XP_016862632.1:p.Ser1792Ala
XM_017007144.1:c.5374T>G	XP_016862633.1:p.Ser1792Ala
XM_017007145.1:c.5329T>G	XP_016862634.1:p.Ser1777Ala
NM_001128840.3:c.5203T>G MANE Select	NP_001122312.1:p.Ser1735Ala
NM_000720.4:c.5263T>G MANE Plus Clinical	NP_000711.1:p.Ser1755Ala
NM_001128839.3:c.5158T>G	NP_001122311.1:p.Ser1720Ala