Canonical Allele Identifier: CA433829401

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53736725G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53702698G>A , CM000665.2:g.53702698G>A	GRCh38
NC_000003.11:g.53736725G>A , CM000665.1:g.53736725G>A	GRCh37
NC_000003.10:g.53711765G>A	NCBI36
NG_032999.1:g.212650G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000481478.2:c.1278G>A	ENSP00000418014.2:p.Arg426=
ENST00000636627.2:c.1278G>A	ENSP00000490889.2:p.Arg426=
ENST00000288139.11:c.1278G>A MANE Plus Clinical	ENSP00000288139.3:p.Arg426=
ENST00000350061.11:c.1278G>A MANE Select	ENSP00000288133.5:p.Arg426=
ENST00000422281.7:c.1278G>A	ENSP00000409174.2:p.Arg426=
ENST00000636570.1:c.1278G>A	ENSP00000490183.1:p.Arg426=
ENST00000636627.1:c.518G>A
ENST00000636938.1:c.1278G>A	ENSP00000490039.1:p.Arg426=
ENST00000637424.1:c.1350G>A	ENSP00000489769.1:p.Arg450=
ENST00000640483.1:c.1251G>A	ENSP00000491921.1:p.Arg417=
ENST00000288139.8:c.1278G>A	ENSP00000288139.3:p.Arg426=
ENST00000350061.9:c.1278G>A	ENSP00000288133.5:p.Arg426=
ENST00000422281.6:c.1278G>A	ENSP00000409174.2:p.Arg426=
ENST00000481085.5:c.335G>A
ENST00000481478.1:c.297G>A	ENSP00000418014.1:p.Arg99=
NM_000720.3:c.1278G>A	NP_000711.1:p.Arg426=
NM_001128839.2:c.1278G>A	NP_001122311.1:p.Arg426=
NM_001128840.2:c.1278G>A	NP_001122312.1:p.Arg426=
XM_005265448.2:c.1278G>A	XP_005265505.1:p.Arg426=
XM_011534094.1:c.1389G>A	XP_011532396.1:p.Arg463=
XM_011534095.1:c.1278G>A	XP_011532397.1:p.Arg426=
XM_011534096.1:c.1389G>A	XP_011532398.1:p.Arg463=
XM_011534097.1:c.852G>A	XP_011532399.1:p.Arg284=
XM_011534098.1:c.852G>A	XP_011532400.1:p.Arg284=
XM_011534099.1:c.477G>A	XP_011532401.1:p.Arg159=
XM_011534100.1:c.1389G>A	XP_011532402.1:p.Arg463=
XM_005265448.3:c.1278G>A	XP_005265505.1:p.Arg426=
XM_011534094.2:c.1389G>A	XP_011532396.1:p.Arg463=
XM_011534096.2:c.1389G>A	XP_011532398.1:p.Arg463=
XM_011534097.2:c.852G>A	XP_011532399.1:p.Arg284=
XM_011534099.2:c.477G>A	XP_011532401.1:p.Arg159=
XM_011534100.2:c.1389G>A	XP_011532402.1:p.Arg463=
XM_017007137.1:c.1389G>A	XP_016862626.1:p.Arg463=
XM_017007138.1:c.1389G>A	XP_016862627.1:p.Arg463=
XM_017007139.1:c.1389G>A	XP_016862628.1:p.Arg463=
XM_017007140.1:c.1389G>A	XP_016862629.1:p.Arg463=
XM_017007141.1:c.1389G>A	XP_016862630.1:p.Arg463=
XM_017007142.1:c.1389G>A	XP_016862631.1:p.Arg463=
XM_017007143.1:c.1389G>A	XP_016862632.1:p.Arg463=
XM_017007144.1:c.1389G>A	XP_016862633.1:p.Arg463=
XM_017007145.1:c.1389G>A	XP_016862634.1:p.Arg463=
NM_001128840.3:c.1278G>A MANE Select	NP_001122312.1:p.Arg426=
NM_000720.4:c.1278G>A MANE Plus Clinical	NP_000711.1:p.Arg426=
NM_001128839.3:c.1278G>A	NP_001122311.1:p.Arg426=