Canonical Allele Identifier: CA433895885

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835177G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801150G>C , CM000665.2:g.53801150G>C	GRCh38
NC_000003.11:g.53835177G>C , CM000665.1:g.53835177G>C	GRCh37
NC_000003.10:g.53810217G>C	NCBI36
NG_032999.1:g.311102G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5193G>C	ENSP00000418014.2:p.Leu1731=
ENST00000636633.2:n.2194-62G>C
ENST00000636999.2:n.568G>C
ENST00000288139.11:c.5193G>C MANE Plus Clinical	ENSP00000288139.3:p.Leu1731=
ENST00000350061.11:c.5133G>C MANE Select	ENSP00000288133.5:p.Leu1711=
ENST00000422281.7:c.5088G>C	ENSP00000409174.2:p.Leu1696=
ENST00000636448.1:c.1316-62G>C
ENST00000636570.1:c.5088G>C	ENSP00000490183.1:p.Leu1696=
ENST00000636629.1:n.489G>C
ENST00000636633.1:n.2194-62G>C
ENST00000636999.1:n.560G>C
ENST00000637424.1:c.5160G>C	ENSP00000489769.1:p.Leu1720=
ENST00000288139.8:c.5193G>C	ENSP00000288139.3:p.Leu1731=
ENST00000350061.9:c.5133G>C	ENSP00000288133.5:p.Leu1711=
ENST00000422281.6:c.5088G>C	ENSP00000409174.2:p.Leu1696=
ENST00000481478.1:c.4212G>C	ENSP00000418014.1:p.Leu1404=
NM_000720.3:c.5193G>C	NP_000711.1:p.Leu1731=
NM_001128839.2:c.5088G>C	NP_001122311.1:p.Leu1696=
NM_001128840.2:c.5133G>C	NP_001122312.1:p.Leu1711=
XM_005265448.2:c.5088G>C	XP_005265505.1:p.Leu1696=
XM_011534094.1:c.5388G>C	XP_011532396.1:p.Leu1796=
XM_011534095.1:c.5277G>C	XP_011532397.1:p.Leu1759=
XM_011534096.1:c.5199G>C	XP_011532398.1:p.Leu1733=
XM_011534097.1:c.4851G>C	XP_011532399.1:p.Leu1617=
XM_011534098.1:c.4851G>C	XP_011532400.1:p.Leu1617=
XM_011534099.1:c.4476G>C	XP_011532401.1:p.Leu1492=
XM_011534100.1:c.5283G>C	XP_011532402.1:p.Leu1761=
XM_005265448.3:c.5088G>C	XP_005265505.1:p.Leu1696=
XM_011534094.2:c.5388G>C	XP_011532396.1:p.Leu1796=
XM_011534096.2:c.5199G>C	XP_011532398.1:p.Leu1733=
XM_011534097.2:c.4851G>C	XP_011532399.1:p.Leu1617=
XM_011534099.2:c.4476G>C	XP_011532401.1:p.Leu1492=
XM_011534100.2:c.5283G>C	XP_011532402.1:p.Leu1761=
XM_017007137.1:c.5388G>C	XP_016862626.1:p.Leu1796=
XM_017007138.1:c.5385G>C	XP_016862627.1:p.Leu1795=
XM_017007139.1:c.5388G>C	XP_016862628.1:p.Leu1796=
XM_017007140.1:c.5328G>C	XP_016862629.1:p.Leu1776=
XM_017007141.1:c.5328G>C	XP_016862630.1:p.Leu1776=
XM_017007142.1:c.5304G>C	XP_016862631.1:p.Leu1768=
XM_017007143.1:c.5304G>C	XP_016862632.1:p.Leu1768=
XM_017007144.1:c.5304G>C	XP_016862633.1:p.Leu1768=
XM_017007145.1:c.5259G>C	XP_016862634.1:p.Leu1753=
NM_001128840.3:c.5133G>C MANE Select	NP_001122312.1:p.Leu1711=
NM_000720.4:c.5193G>C MANE Plus Clinical	NP_000711.1:p.Leu1731=
NM_001128839.3:c.5088G>C	NP_001122311.1:p.Leu1696=