Canonical Allele Identifier: CA2455112

Gene: CACNA1D

Linked Data

• dbSNP Id: rs757029372
• ExAC: 3:53835446 T / G
• gnomAD v2: 3-53835446-T-G
• gnomAD v4: 3-53801419-T-G
• MyVariant Identifiers: chr3:g.53835446T>G (hg19) ; chr3:g.53801419T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801419T>G , CM000665.2:g.53801419T>G	GRCh38
NC_000003.11:g.53835446T>G , CM000665.1:g.53835446T>G	GRCh37
NC_000003.10:g.53810486T>G	NCBI36
NG_032999.1:g.311371T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5462T>G	ENSP00000418014.2:p.Val1821Gly
ENST00000636633.2:n.2401T>G
ENST00000636999.2:n.837T>G
ENST00000288139.11:c.5462T>G MANE Plus Clinical	ENSP00000288139.3:p.Val1821Gly
ENST00000350061.11:c.5402T>G MANE Select	ENSP00000288133.5:p.Val1801Gly
ENST00000422281.7:c.5357T>G	ENSP00000409174.2:p.Val1786Gly
ENST00000636448.1:c.1523T>G
ENST00000636570.1:c.5357T>G	ENSP00000490183.1:p.Val1786Gly
ENST00000636629.1:n.758T>G
ENST00000636633.1:n.2401T>G
ENST00000636999.1:n.829T>G
ENST00000637424.1:c.5429T>G	ENSP00000489769.1:p.Val1810Gly
ENST00000637844.1:n.156T>G
ENST00000288139.8:c.5462T>G	ENSP00000288139.3:p.Val1821Gly
ENST00000350061.9:c.5402T>G	ENSP00000288133.5:p.Val1801Gly
ENST00000422281.6:c.5357T>G	ENSP00000409174.2:p.Val1786Gly
ENST00000481478.1:c.4481T>G	ENSP00000418014.1:p.Val1494Gly
NM_000720.3:c.5462T>G	NP_000711.1:p.Val1821Gly
NM_001128839.2:c.5357T>G	NP_001122311.1:p.Val1786Gly
NM_001128840.2:c.5402T>G	NP_001122312.1:p.Val1801Gly
XM_005265448.2:c.5357T>G	XP_005265505.1:p.Val1786Gly
XM_011534094.1:c.5657T>G	XP_011532396.1:p.Val1886Gly
XM_011534095.1:c.5546T>G	XP_011532397.1:p.Val1849Gly
XM_011534096.1:c.5468T>G	XP_011532398.1:p.Val1823Gly
XM_011534097.1:c.5120T>G	XP_011532399.1:p.Val1707Gly
XM_011534098.1:c.5120T>G	XP_011532400.1:p.Val1707Gly
XM_011534099.1:c.4745T>G	XP_011532401.1:p.Val1582Gly
XM_011534100.1:c.5552T>G	XP_011532402.1:p.Val1851Gly
XM_005265448.3:c.5357T>G	XP_005265505.1:p.Val1786Gly
XM_011534094.2:c.5657T>G	XP_011532396.1:p.Val1886Gly
XM_011534096.2:c.5468T>G	XP_011532398.1:p.Val1823Gly
XM_011534097.2:c.5120T>G	XP_011532399.1:p.Val1707Gly
XM_011534099.2:c.4745T>G	XP_011532401.1:p.Val1582Gly
XM_011534100.2:c.5552T>G	XP_011532402.1:p.Val1851Gly
XM_017007137.1:c.5657T>G	XP_016862626.1:p.Val1886Gly
XM_017007138.1:c.5654T>G	XP_016862627.1:p.Val1885Gly
XM_017007139.1:c.5657T>G	XP_016862628.1:p.Val1886Gly
XM_017007140.1:c.5597T>G	XP_016862629.1:p.Val1866Gly
XM_017007141.1:c.5597T>G	XP_016862630.1:p.Val1866Gly
XM_017007142.1:c.5573T>G	XP_016862631.1:p.Val1858Gly
XM_017007143.1:c.5573T>G	XP_016862632.1:p.Val1858Gly
XM_017007144.1:c.5573T>G	XP_016862633.1:p.Val1858Gly
XM_017007145.1:c.5528T>G	XP_016862634.1:p.Val1843Gly
NM_001128840.3:c.5402T>G MANE Select	NP_001122312.1:p.Val1801Gly
NM_000720.4:c.5462T>G MANE Plus Clinical	NP_000711.1:p.Val1821Gly
NM_001128839.3:c.5357T>G	NP_001122311.1:p.Val1786Gly