Canonical Allele Identifier: CA6386154

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1800416G>A , CM000674.2:g.1800416G>A	GRCh38
NC_000012.11:g.1909582G>A , CM000674.1:g.1909582G>A	GRCh37
NC_000012.10:g.1779843G>A	NCBI36
NG_012663.1:g.123289C>T
NG_012663.2:g.123289C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.2891C>T MANE Select	NP_758952.4:p.Ala964Val
ENST00000382722.10:c.2891C>T MANE Select	ENSP00000372169.4:p.Ala964Val
NM_172364.4:c.2891C>T	NP_758952.4:p.Ala964Val
ENST00000280663.12:n.3084C>T
ENST00000382722.9:c.2891C>T	ENSP00000372169.4:p.Ala964Val
ENST00000444595.6:c.*1075C>T	ENSP00000403371.2:n.*1075C>T
ENST00000536846.6:c.331C>T
ENST00000537784.5:c.661C>T
ENST00000537923.5:c.*84C>T	ENSP00000464949.1:n.*84C>T
ENST00000538027.6:c.326C>T	ENSP00000443038.2:p.Ala109Val
ENST00000538450.5:c.281C>T	ENSP00000446341.1:p.Ala94Val
ENST00000540728.6:n.387C>T
ENST00000541331.5:n.262C>T
ENST00000541616.1:n.167C>T
ENST00000542340.1:n.370C>T
ENST00000545595.6:c.*84C>T	ENSP00000442329.2:n.*84C>T
ENST00000585385.5:c.*84C>T	ENSP00000467333.1:n.*84C>T
ENST00000585708.5:c.2699C>T	ENSP00000467697.1:p.Ala900Val
ENST00000586184.5:c.2891C>T	ENSP00000465060.1:p.Ala964Val
ENST00000587995.5:c.2816C>T	ENSP00000465372.1:p.Ala939Val
ENST00000588077.5:c.2699C>T	ENSP00000468530.1:p.Ala900Val
ENST00000589502.5:n.273C>T
XM_011521041.1:c.2828C>T	XP_011519343.1:p.Ala943Val
XM_011521041.2:c.2828C>T	XP_011519343.1:p.Ala943Val