Canonical Allele Identifier: CA394816203

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13920283G>C , CM000678.2:g.13920283G>C	GRCh38
NC_000016.9:g.14014140G>C , CM000678.1:g.14014140G>C	GRCh37
NC_000016.8:g.13921641G>C	NCBI36
NG_011442.1:g.5127G>C , LRG_463:g.5127G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.118G>C MANE Select	NP_005227.1:p.Gly40Arg
ENST00000311895.8:c.118G>C MANE Select	ENSP00000310520.7:p.Gly40Arg
NM_005236.2:c.118G>C , LRG_463t1:c.118G>C	NP_005227.1:p.Gly40Arg
ENST00000311895.7:c.118G>C	ENSP00000310520.7:p.Gly40Arg
ENST00000575156.5:c.118G>C	ENSP00000459933.1:p.Gly40Arg
ENST00000576348.1:n.93G>C
ENST00000682552.1:n.106G>C
ENST00000682617.1:c.118G>C	ENSP00000507912.1:p.Gly40Arg
ENST00000682826.1:c.118G>C	ENSP00000507274.1:p.Gly40Arg
ENST00000682909.1:n.127G>C
ENST00000683277.1:n.105G>C
ENST00000683407.1:n.126G>C
ENST00000683962.1:c.118G>C	ENSP00000506854.1:p.Gly40Arg
XM_011522424.1:c.118G>C	XP_011520726.1:p.Gly40Arg
XM_011522424.3:c.118G>C	XP_011520726.1:p.Gly40Arg
XM_017023043.2:c.-820G>C	XP_016878532.1:n.-820G>C
XR_932805.1:n.139G>C
XR_933098.1:n.82+6242C>G
XR_933099.1:n.82+6242C>G
XR_933100.1:n.82+6242C>G