Canonical Allele Identifier: CA433896028

Gene: CACNA1D

Linked Data

• COSMIC: COSM5451750 ; COSM5451751
• MyVariant Identifiers: chr3:g.53835231T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801204T>C , CM000665.2:g.53801204T>C	GRCh38
NC_000003.11:g.53835231T>C , CM000665.1:g.53835231T>C	GRCh37
NC_000003.10:g.53810271T>C	NCBI36
NG_032999.1:g.311156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5247T>C	ENSP00000418014.2:p.Phe1749=
ENST00000636633.2:n.2194-8T>C
ENST00000636999.2:n.622T>C
ENST00000288139.11:c.5247T>C MANE Plus Clinical	ENSP00000288139.3:p.Phe1749=
ENST00000350061.11:c.5187T>C MANE Select	ENSP00000288133.5:p.Phe1729=
ENST00000422281.7:c.5142T>C	ENSP00000409174.2:p.Phe1714=
ENST00000636448.1:c.1316-8T>C
ENST00000636570.1:c.5142T>C	ENSP00000490183.1:p.Phe1714=
ENST00000636629.1:n.543T>C
ENST00000636633.1:n.2194-8T>C
ENST00000636999.1:n.614T>C
ENST00000637424.1:c.5214T>C	ENSP00000489769.1:p.Phe1738=
ENST00000288139.8:c.5247T>C	ENSP00000288139.3:p.Phe1749=
ENST00000350061.9:c.5187T>C	ENSP00000288133.5:p.Phe1729=
ENST00000422281.6:c.5142T>C	ENSP00000409174.2:p.Phe1714=
ENST00000481478.1:c.4266T>C	ENSP00000418014.1:p.Phe1422=
NM_000720.3:c.5247T>C	NP_000711.1:p.Phe1749=
NM_001128839.2:c.5142T>C	NP_001122311.1:p.Phe1714=
NM_001128840.2:c.5187T>C	NP_001122312.1:p.Phe1729=
XM_005265448.2:c.5142T>C	XP_005265505.1:p.Phe1714=
XM_011534094.1:c.5442T>C	XP_011532396.1:p.Phe1814=
XM_011534095.1:c.5331T>C	XP_011532397.1:p.Phe1777=
XM_011534096.1:c.5253T>C	XP_011532398.1:p.Phe1751=
XM_011534097.1:c.4905T>C	XP_011532399.1:p.Phe1635=
XM_011534098.1:c.4905T>C	XP_011532400.1:p.Phe1635=
XM_011534099.1:c.4530T>C	XP_011532401.1:p.Phe1510=
XM_011534100.1:c.5337T>C	XP_011532402.1:p.Phe1779=
XM_005265448.3:c.5142T>C	XP_005265505.1:p.Phe1714=
XM_011534094.2:c.5442T>C	XP_011532396.1:p.Phe1814=
XM_011534096.2:c.5253T>C	XP_011532398.1:p.Phe1751=
XM_011534097.2:c.4905T>C	XP_011532399.1:p.Phe1635=
XM_011534099.2:c.4530T>C	XP_011532401.1:p.Phe1510=
XM_011534100.2:c.5337T>C	XP_011532402.1:p.Phe1779=
XM_017007137.1:c.5442T>C	XP_016862626.1:p.Phe1814=
XM_017007138.1:c.5439T>C	XP_016862627.1:p.Phe1813=
XM_017007139.1:c.5442T>C	XP_016862628.1:p.Phe1814=
XM_017007140.1:c.5382T>C	XP_016862629.1:p.Phe1794=
XM_017007141.1:c.5382T>C	XP_016862630.1:p.Phe1794=
XM_017007142.1:c.5358T>C	XP_016862631.1:p.Phe1786=
XM_017007143.1:c.5358T>C	XP_016862632.1:p.Phe1786=
XM_017007144.1:c.5358T>C	XP_016862633.1:p.Phe1786=
XM_017007145.1:c.5313T>C	XP_016862634.1:p.Phe1771=
NM_001128840.3:c.5187T>C MANE Select	NP_001122312.1:p.Phe1729=
NM_000720.4:c.5247T>C MANE Plus Clinical	NP_000711.1:p.Phe1749=
NM_001128839.3:c.5142T>C	NP_001122311.1:p.Phe1714=