Canonical Allele Identifier: CA493424896

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13926748G>C , CM000678.2:g.13926748G>C	GRCh38
NC_000016.9:g.14020605G>C , CM000678.1:g.14020605G>C	GRCh37
NC_000016.8:g.13928106G>C	NCBI36
NG_011442.1:g.11592G>C , LRG_463:g.11592G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.576G>C MANE Select	NP_005227.1:p.Leu192=
ENST00000311895.8:c.576G>C MANE Select	ENSP00000310520.7:p.Leu192=
NM_005236.2:c.576G>C , LRG_463t1:c.576G>C	NP_005227.1:p.Leu192=
ENST00000311895.7:c.576G>C	ENSP00000310520.7:p.Leu192=
ENST00000574194.1:c.197G>C
ENST00000575156.5:c.576G>C	ENSP00000459933.1:p.Leu192=
ENST00000576348.1:n.551G>C
ENST00000682552.1:n.564G>C
ENST00000682568.1:n.506G>C
ENST00000682617.1:c.714G>C	ENSP00000507912.1:p.Leu238=
ENST00000682826.1:c.576G>C	ENSP00000507274.1:p.Leu192=
ENST00000682909.1:n.2616G>C
ENST00000683277.1:n.2221G>C
ENST00000683407.1:n.584G>C
ENST00000683962.1:c.*270G>C	ENSP00000506854.1:n.*270G>C
XM_011522424.1:c.714G>C	XP_011520726.1:p.Leu238=
XM_011522424.3:c.714G>C	XP_011520726.1:p.Leu238=
XM_011522425.1:c.33G>C	XP_011520727.1:p.Leu11=
XM_017023043.2:c.-362G>C	XP_016878532.1:n.-362G>C
XR_932805.1:n.735G>C