Canonical Allele Identifier: CA353259330

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53811284-C-G
• MyVariant Identifiers: chr3:g.53845311C>G (hg19) ; chr3:g.53811284C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811284C>G , CM000665.2:g.53811284C>G	GRCh38
NC_000003.11:g.53845311C>G , CM000665.1:g.53845311C>G	GRCh37
NC_000003.10:g.53820351C>G	NCBI36
NG_032999.1:g.321236C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6424C>G	ENSP00000418014.2:p.Leu2142Val
ENST00000636581.2:n.1753C>G
ENST00000636633.2:n.3363C>G
ENST00000636999.2:n.1799C>G
ENST00000288139.11:c.6424C>G MANE Plus Clinical	ENSP00000288139.3:p.Leu2142Val
ENST00000350061.11:c.6364C>G MANE Select	ENSP00000288133.5:p.Leu2122Val
ENST00000422281.7:c.6292C>G	ENSP00000409174.2:p.Leu2098Val
ENST00000636448.1:c.2485C>G
ENST00000636570.1:c.6319C>G	ENSP00000490183.1:p.Leu2107Val
ENST00000636581.1:n.1753C>G
ENST00000636629.1:n.1736C>G
ENST00000636633.1:n.3363C>G
ENST00000636999.1:n.1791C>G
ENST00000637424.1:c.6391C>G	ENSP00000489769.1:p.Leu2131Val
ENST00000288139.8:c.6424C>G	ENSP00000288139.3:p.Leu2142Val
ENST00000350061.9:c.6364C>G	ENSP00000288133.5:p.Leu2122Val
ENST00000422281.6:c.6292C>G	ENSP00000409174.2:p.Leu2098Val
ENST00000481478.1:c.5443C>G	ENSP00000418014.1:p.Leu1815Val
NM_000720.3:c.6424C>G	NP_000711.1:p.Leu2142Val
NM_001128839.2:c.6292C>G	NP_001122311.1:p.Leu2098Val
NM_001128840.2:c.6364C>G	NP_001122312.1:p.Leu2122Val
XM_005265448.2:c.6319C>G	XP_005265505.1:p.Leu2107Val
XM_011534094.1:c.6619C>G	XP_011532396.1:p.Leu2207Val
XM_011534095.1:c.6508C>G	XP_011532397.1:p.Leu2170Val
XM_011534096.1:c.6430C>G	XP_011532398.1:p.Leu2144Val
XM_011534097.1:c.6082C>G	XP_011532399.1:p.Leu2028Val
XM_011534098.1:c.6082C>G	XP_011532400.1:p.Leu2028Val
XM_011534099.1:c.5707C>G	XP_011532401.1:p.Leu1903Val
XM_011534100.1:c.6514C>G	XP_011532402.1:p.Leu2172Val
XM_005265448.3:c.6319C>G	XP_005265505.1:p.Leu2107Val
XM_011534094.2:c.6619C>G	XP_011532396.1:p.Leu2207Val
XM_011534096.2:c.6430C>G	XP_011532398.1:p.Leu2144Val
XM_011534097.2:c.6082C>G	XP_011532399.1:p.Leu2028Val
XM_011534099.2:c.5707C>G	XP_011532401.1:p.Leu1903Val
XM_011534100.2:c.6514C>G	XP_011532402.1:p.Leu2172Val
XM_017007137.1:c.6619C>G	XP_016862626.1:p.Leu2207Val
XM_017007138.1:c.6616C>G	XP_016862627.1:p.Leu2206Val
XM_017007139.1:c.6592C>G	XP_016862628.1:p.Leu2198Val
XM_017007140.1:c.6559C>G	XP_016862629.1:p.Leu2187Val
XM_017007141.1:c.6559C>G	XP_016862630.1:p.Leu2187Val
XM_017007142.1:c.6535C>G	XP_016862631.1:p.Leu2179Val
XM_017007143.1:c.6535C>G	XP_016862632.1:p.Leu2179Val
XM_017007144.1:c.6535C>G	XP_016862633.1:p.Leu2179Val
XM_017007145.1:c.6490C>G	XP_016862634.1:p.Leu2164Val
NM_001128840.3:c.6364C>G MANE Select	NP_001122312.1:p.Leu2122Val
NM_000720.4:c.6424C>G MANE Plus Clinical	NP_000711.1:p.Leu2142Val
NM_001128839.3:c.6292C>G	NP_001122311.1:p.Leu2098Val