Canonical Allele Identifier: CA353251589

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 992727
• ClinVar RCV Id: RCV001281453
• dbSNP Id: rs2095534880
• gnomAD v3: 3-53801359-C-G
• gnomAD v4: 3-53801359-C-G
• MyVariant Identifiers: chr3:g.53835386C>G (hg19) ; chr3:g.53801359C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801359C>G , CM000665.2:g.53801359C>G	GRCh38
NC_000003.11:g.53835386C>G , CM000665.1:g.53835386C>G	GRCh37
NC_000003.10:g.53810426C>G	NCBI36
NG_032999.1:g.311311C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5402C>G	ENSP00000418014.2:p.Ser1801Cys
ENST00000636633.2:n.2341C>G
ENST00000636999.2:n.777C>G
ENST00000288139.11:c.5402C>G MANE Plus Clinical	ENSP00000288139.3:p.Ser1801Cys
ENST00000350061.11:c.5342C>G MANE Select	ENSP00000288133.5:p.Ser1781Cys
ENST00000422281.7:c.5297C>G	ENSP00000409174.2:p.Ser1766Cys
ENST00000636448.1:c.1463C>G
ENST00000636570.1:c.5297C>G	ENSP00000490183.1:p.Ser1766Cys
ENST00000636629.1:n.698C>G
ENST00000636633.1:n.2341C>G
ENST00000636999.1:n.769C>G
ENST00000637424.1:c.5369C>G	ENSP00000489769.1:p.Ser1790Cys
ENST00000637844.1:n.96C>G
ENST00000288139.8:c.5402C>G	ENSP00000288139.3:p.Ser1801Cys
ENST00000350061.9:c.5342C>G	ENSP00000288133.5:p.Ser1781Cys
ENST00000422281.6:c.5297C>G	ENSP00000409174.2:p.Ser1766Cys
ENST00000481478.1:c.4421C>G	ENSP00000418014.1:p.Ser1474Cys
NM_000720.3:c.5402C>G	NP_000711.1:p.Ser1801Cys
NM_001128839.2:c.5297C>G	NP_001122311.1:p.Ser1766Cys
NM_001128840.2:c.5342C>G	NP_001122312.1:p.Ser1781Cys
XM_005265448.2:c.5297C>G	XP_005265505.1:p.Ser1766Cys
XM_011534094.1:c.5597C>G	XP_011532396.1:p.Ser1866Cys
XM_011534095.1:c.5486C>G	XP_011532397.1:p.Ser1829Cys
XM_011534096.1:c.5408C>G	XP_011532398.1:p.Ser1803Cys
XM_011534097.1:c.5060C>G	XP_011532399.1:p.Ser1687Cys
XM_011534098.1:c.5060C>G	XP_011532400.1:p.Ser1687Cys
XM_011534099.1:c.4685C>G	XP_011532401.1:p.Ser1562Cys
XM_011534100.1:c.5492C>G	XP_011532402.1:p.Ser1831Cys
XM_005265448.3:c.5297C>G	XP_005265505.1:p.Ser1766Cys
XM_011534094.2:c.5597C>G	XP_011532396.1:p.Ser1866Cys
XM_011534096.2:c.5408C>G	XP_011532398.1:p.Ser1803Cys
XM_011534097.2:c.5060C>G	XP_011532399.1:p.Ser1687Cys
XM_011534099.2:c.4685C>G	XP_011532401.1:p.Ser1562Cys
XM_011534100.2:c.5492C>G	XP_011532402.1:p.Ser1831Cys
XM_017007137.1:c.5597C>G	XP_016862626.1:p.Ser1866Cys
XM_017007138.1:c.5594C>G	XP_016862627.1:p.Ser1865Cys
XM_017007139.1:c.5597C>G	XP_016862628.1:p.Ser1866Cys
XM_017007140.1:c.5537C>G	XP_016862629.1:p.Ser1846Cys
XM_017007141.1:c.5537C>G	XP_016862630.1:p.Ser1846Cys
XM_017007142.1:c.5513C>G	XP_016862631.1:p.Ser1838Cys
XM_017007143.1:c.5513C>G	XP_016862632.1:p.Ser1838Cys
XM_017007144.1:c.5513C>G	XP_016862633.1:p.Ser1838Cys
XM_017007145.1:c.5468C>G	XP_016862634.1:p.Ser1823Cys
NM_001128840.3:c.5342C>G MANE Select	NP_001122312.1:p.Ser1781Cys
NM_000720.4:c.5402C>G MANE Plus Clinical	NP_000711.1:p.Ser1801Cys
NM_001128839.3:c.5297C>G	NP_001122311.1:p.Ser1766Cys