Canonical Allele Identifier: CA394821514

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947676G>A , CM000678.2:g.13947676G>A	GRCh38
NC_000016.9:g.14041533G>A , CM000678.1:g.14041533G>A	GRCh37
NC_000016.8:g.13949034G>A	NCBI36
NG_011442.1:g.32520G>A , LRG_463:g.32520G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2080G>A MANE Select	NP_005227.1:p.Glu694Lys
ENST00000311895.8:c.2080G>A MANE Select	ENSP00000310520.7:p.Glu694Lys
NM_005236.2:c.2080G>A , LRG_463t1:c.2080G>A	NP_005227.1:p.Glu694Lys
ENST00000311895.7:c.2080G>A	ENSP00000310520.7:p.Glu694Lys
ENST00000389138.7:n.1357G>A
ENST00000462862.1:c.393G>A	ENSP00000461322.1:n.393G>A
ENST00000682617.1:c.2218G>A	ENSP00000507912.1:p.Glu740Lys
ENST00000683962.1:c.*1774G>A	ENSP00000506854.1:n.*1774G>A
XM_011522424.1:c.2218G>A	XP_011520726.1:p.Glu740Lys
XM_011522424.3:c.2218G>A	XP_011520726.1:p.Glu740Lys
XM_011522425.1:c.1537G>A	XP_011520727.1:p.Glu513Lys
XM_011522426.1:c.1291G>A	XP_011520728.1:p.Glu431Lys
XM_011522427.1:c.730G>A	XP_011520729.1:p.Glu244Lys
XM_017023043.2:c.1291G>A	XP_016878532.1:p.Glu431Lys
XR_932805.1:n.2239G>A