Canonical Allele Identifier: CA383353727

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1878371C>T , CM000674.2:g.1878371C>T	GRCh38
NC_000012.11:g.1987537C>T , CM000674.1:g.1987537C>T	GRCh37
NC_000012.10:g.1857798C>T	NCBI36
NG_012663.1:g.45334G>A
NG_012663.2:g.45334G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.1663G>A MANE Select	NP_758952.4:p.Ala555Thr
ENST00000382722.10:c.1663G>A MANE Select	ENSP00000372169.4:p.Ala555Thr
NM_172364.4:c.1663G>A	NP_758952.4:p.Ala555Thr
ENST00000280663.12:n.1856G>A
ENST00000382722.9:c.1663G>A	ENSP00000372169.4:p.Ala555Thr
ENST00000444595.6:c.1715G>A	ENSP00000403371.2:p.Arg572His
ENST00000585708.5:c.1471G>A	ENSP00000467697.1:p.Ala491Thr
ENST00000585732.1:c.1318G>A	ENSP00000468080.1:p.Ala440Thr
ENST00000586184.5:c.1663G>A	ENSP00000465060.1:p.Ala555Thr
ENST00000587995.5:c.1644+585G>A	ENSP00000465372.1:n.1644+585G>A
ENST00000588077.5:c.1471G>A	ENSP00000468530.1:p.Ala491Thr
XM_011521041.1:c.1672G>A	XP_011519343.1:p.Ala558Thr
XM_011521041.2:c.1672G>A	XP_011519343.1:p.Ala558Thr
XR_931529.1:n.4116G>A
XR_931530.1:n.4116G>A
XR_931531.1:n.4107G>A