Canonical Allele Identifier: CA433804160

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53801420-G-C
• MyVariant Identifiers: chr3:g.53835447G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801420G>C , CM000665.2:g.53801420G>C	GRCh38
NC_000003.11:g.53835447G>C , CM000665.1:g.53835447G>C	GRCh37
NC_000003.10:g.53810487G>C	NCBI36
NG_032999.1:g.311372G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5463G>C	ENSP00000418014.2:p.Val1821=
ENST00000636633.2:n.2402G>C
ENST00000636999.2:n.838G>C
ENST00000288139.11:c.5463G>C MANE Plus Clinical	ENSP00000288139.3:p.Val1821=
ENST00000350061.11:c.5403G>C MANE Select	ENSP00000288133.5:p.Val1801=
ENST00000422281.7:c.5358G>C	ENSP00000409174.2:p.Val1786=
ENST00000636448.1:c.1524G>C
ENST00000636570.1:c.5358G>C	ENSP00000490183.1:p.Val1786=
ENST00000636629.1:n.759G>C
ENST00000636633.1:n.2402G>C
ENST00000636999.1:n.830G>C
ENST00000637424.1:c.5430G>C	ENSP00000489769.1:p.Val1810=
ENST00000637844.1:n.157G>C
ENST00000288139.8:c.5463G>C	ENSP00000288139.3:p.Val1821=
ENST00000350061.9:c.5403G>C	ENSP00000288133.5:p.Val1801=
ENST00000422281.6:c.5358G>C	ENSP00000409174.2:p.Val1786=
ENST00000481478.1:c.4482G>C	ENSP00000418014.1:p.Val1494=
NM_000720.3:c.5463G>C	NP_000711.1:p.Val1821=
NM_001128839.2:c.5358G>C	NP_001122311.1:p.Val1786=
NM_001128840.2:c.5403G>C	NP_001122312.1:p.Val1801=
XM_005265448.2:c.5358G>C	XP_005265505.1:p.Val1786=
XM_011534094.1:c.5658G>C	XP_011532396.1:p.Val1886=
XM_011534095.1:c.5547G>C	XP_011532397.1:p.Val1849=
XM_011534096.1:c.5469G>C	XP_011532398.1:p.Val1823=
XM_011534097.1:c.5121G>C	XP_011532399.1:p.Val1707=
XM_011534098.1:c.5121G>C	XP_011532400.1:p.Val1707=
XM_011534099.1:c.4746G>C	XP_011532401.1:p.Val1582=
XM_011534100.1:c.5553G>C	XP_011532402.1:p.Val1851=
XM_005265448.3:c.5358G>C	XP_005265505.1:p.Val1786=
XM_011534094.2:c.5658G>C	XP_011532396.1:p.Val1886=
XM_011534096.2:c.5469G>C	XP_011532398.1:p.Val1823=
XM_011534097.2:c.5121G>C	XP_011532399.1:p.Val1707=
XM_011534099.2:c.4746G>C	XP_011532401.1:p.Val1582=
XM_011534100.2:c.5553G>C	XP_011532402.1:p.Val1851=
XM_017007137.1:c.5658G>C	XP_016862626.1:p.Val1886=
XM_017007138.1:c.5655G>C	XP_016862627.1:p.Val1885=
XM_017007139.1:c.5658G>C	XP_016862628.1:p.Val1886=
XM_017007140.1:c.5598G>C	XP_016862629.1:p.Val1866=
XM_017007141.1:c.5598G>C	XP_016862630.1:p.Val1866=
XM_017007142.1:c.5574G>C	XP_016862631.1:p.Val1858=
XM_017007143.1:c.5574G>C	XP_016862632.1:p.Val1858=
XM_017007144.1:c.5574G>C	XP_016862633.1:p.Val1858=
XM_017007145.1:c.5529G>C	XP_016862634.1:p.Val1843=
NM_001128840.3:c.5403G>C MANE Select	NP_001122312.1:p.Val1801=
NM_000720.4:c.5463G>C MANE Plus Clinical	NP_000711.1:p.Val1821=
NM_001128839.3:c.5358G>C	NP_001122311.1:p.Val1786=