Canonical Allele Identifier: CA394823341

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947980T>A , CM000678.2:g.13947980T>A	GRCh38
NC_000016.9:g.14041837T>A , CM000678.1:g.14041837T>A	GRCh37
NC_000016.8:g.13949338T>A	NCBI36
NG_011442.1:g.32824T>A , LRG_463:g.32824T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2384T>A MANE Select	NP_005227.1:p.Phe795Tyr
ENST00000311895.8:c.2384T>A MANE Select	ENSP00000310520.7:p.Phe795Tyr
NM_005236.2:c.2384T>A , LRG_463t1:c.2384T>A	NP_005227.1:p.Phe795Tyr
ENST00000311895.7:c.2384T>A	ENSP00000310520.7:p.Phe795Tyr
ENST00000389138.7:n.1661T>A
ENST00000462862.1:c.697T>A	ENSP00000461322.1:n.697T>A
ENST00000682617.1:c.2522T>A	ENSP00000507912.1:p.Phe841Tyr
ENST00000683962.1:c.*2078T>A	ENSP00000506854.1:n.*2078T>A
XM_011522424.1:c.2522T>A	XP_011520726.1:p.Phe841Tyr
XM_011522424.3:c.2522T>A	XP_011520726.1:p.Phe841Tyr
XM_011522425.1:c.1841T>A	XP_011520727.1:p.Phe614Tyr
XM_011522426.1:c.1595T>A	XP_011520728.1:p.Phe532Tyr
XM_011522427.1:c.1034T>A	XP_011520729.1:p.Phe345Tyr
XM_017023043.2:c.1595T>A	XP_016878532.1:p.Phe532Tyr
XR_932805.1:n.2543T>A