Canonical Allele Identifier: CA394821763

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947701G>C , CM000678.2:g.13947701G>C	GRCh38
NC_000016.9:g.14041558G>C , CM000678.1:g.14041558G>C	GRCh37
NC_000016.8:g.13949059G>C	NCBI36
NG_011442.1:g.32545G>C , LRG_463:g.32545G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2105G>C MANE Select	NP_005227.1:p.Arg702Pro
ENST00000311895.8:c.2105G>C MANE Select	ENSP00000310520.7:p.Arg702Pro
NM_005236.2:c.2105G>C , LRG_463t1:c.2105G>C	NP_005227.1:p.Arg702Pro
ENST00000311895.7:c.2105G>C	ENSP00000310520.7:p.Arg702Pro
ENST00000389138.7:n.1382G>C
ENST00000462862.1:c.418G>C	ENSP00000461322.1:n.418G>C
ENST00000682617.1:c.2243G>C	ENSP00000507912.1:p.Arg748Pro
ENST00000683962.1:c.*1799G>C	ENSP00000506854.1:n.*1799G>C
XM_011522424.1:c.2243G>C	XP_011520726.1:p.Arg748Pro
XM_011522424.3:c.2243G>C	XP_011520726.1:p.Arg748Pro
XM_011522425.1:c.1562G>C	XP_011520727.1:p.Arg521Pro
XM_011522426.1:c.1316G>C	XP_011520728.1:p.Arg439Pro
XM_011522427.1:c.755G>C	XP_011520729.1:p.Arg252Pro
XM_017023043.2:c.1316G>C	XP_016878532.1:p.Arg439Pro
XR_932805.1:n.2264G>C