Canonical Allele Identifier: CA2455110

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 1215552
• ClinVar RCV Id: RCV001585434
• dbSNP Id: rs143003364
• ExAC: 3:53835422 G / A
• gnomAD v2: 3-53835422-G-A
• gnomAD v3: 3-53801395-G-A
• gnomAD v4: 3-53801395-G-A
• MyVariant Identifiers: chr3:g.53835422G>A (hg19) ; chr3:g.53801395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801395G>A , CM000665.2:g.53801395G>A	GRCh38
NC_000003.11:g.53835422G>A , CM000665.1:g.53835422G>A	GRCh37
NC_000003.10:g.53810462G>A	NCBI36
NG_032999.1:g.311347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5438G>A	ENSP00000418014.2:p.Arg1813Gln
ENST00000636633.2:n.2377G>A
ENST00000636999.2:n.813G>A
ENST00000288139.11:c.5438G>A MANE Plus Clinical	ENSP00000288139.3:p.Arg1813Gln
ENST00000350061.11:c.5378G>A MANE Select	ENSP00000288133.5:p.Arg1793Gln
ENST00000422281.7:c.5333G>A	ENSP00000409174.2:p.Arg1778Gln
ENST00000636448.1:c.1499G>A
ENST00000636570.1:c.5333G>A	ENSP00000490183.1:p.Arg1778Gln
ENST00000636629.1:n.734G>A
ENST00000636633.1:n.2377G>A
ENST00000636999.1:n.805G>A
ENST00000637424.1:c.5405G>A	ENSP00000489769.1:p.Arg1802Gln
ENST00000637844.1:n.132G>A
ENST00000288139.8:c.5438G>A	ENSP00000288139.3:p.Arg1813Gln
ENST00000350061.9:c.5378G>A	ENSP00000288133.5:p.Arg1793Gln
ENST00000422281.6:c.5333G>A	ENSP00000409174.2:p.Arg1778Gln
ENST00000481478.1:c.4457G>A	ENSP00000418014.1:p.Arg1486Gln
NM_000720.3:c.5438G>A	NP_000711.1:p.Arg1813Gln
NM_001128839.2:c.5333G>A	NP_001122311.1:p.Arg1778Gln
NM_001128840.2:c.5378G>A	NP_001122312.1:p.Arg1793Gln
XM_005265448.2:c.5333G>A	XP_005265505.1:p.Arg1778Gln
XM_011534094.1:c.5633G>A	XP_011532396.1:p.Arg1878Gln
XM_011534095.1:c.5522G>A	XP_011532397.1:p.Arg1841Gln
XM_011534096.1:c.5444G>A	XP_011532398.1:p.Arg1815Gln
XM_011534097.1:c.5096G>A	XP_011532399.1:p.Arg1699Gln
XM_011534098.1:c.5096G>A	XP_011532400.1:p.Arg1699Gln
XM_011534099.1:c.4721G>A	XP_011532401.1:p.Arg1574Gln
XM_011534100.1:c.5528G>A	XP_011532402.1:p.Arg1843Gln
XM_005265448.3:c.5333G>A	XP_005265505.1:p.Arg1778Gln
XM_011534094.2:c.5633G>A	XP_011532396.1:p.Arg1878Gln
XM_011534096.2:c.5444G>A	XP_011532398.1:p.Arg1815Gln
XM_011534097.2:c.5096G>A	XP_011532399.1:p.Arg1699Gln
XM_011534099.2:c.4721G>A	XP_011532401.1:p.Arg1574Gln
XM_011534100.2:c.5528G>A	XP_011532402.1:p.Arg1843Gln
XM_017007137.1:c.5633G>A	XP_016862626.1:p.Arg1878Gln
XM_017007138.1:c.5630G>A	XP_016862627.1:p.Arg1877Gln
XM_017007139.1:c.5633G>A	XP_016862628.1:p.Arg1878Gln
XM_017007140.1:c.5573G>A	XP_016862629.1:p.Arg1858Gln
XM_017007141.1:c.5573G>A	XP_016862630.1:p.Arg1858Gln
XM_017007142.1:c.5549G>A	XP_016862631.1:p.Arg1850Gln
XM_017007143.1:c.5549G>A	XP_016862632.1:p.Arg1850Gln
XM_017007144.1:c.5549G>A	XP_016862633.1:p.Arg1850Gln
XM_017007145.1:c.5504G>A	XP_016862634.1:p.Arg1835Gln
NM_001128840.3:c.5378G>A MANE Select	NP_001122312.1:p.Arg1793Gln
NM_000720.4:c.5438G>A MANE Plus Clinical	NP_000711.1:p.Arg1813Gln
NM_001128839.3:c.5333G>A	NP_001122311.1:p.Arg1778Gln