Canonical Allele Identifier: CA394801540

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13926704G>C , CM000678.2:g.13926704G>C	GRCh38
NC_000016.9:g.14020561G>C , CM000678.1:g.14020561G>C	GRCh37
NC_000016.8:g.13928062G>C	NCBI36
NG_011442.1:g.11548G>C , LRG_463:g.11548G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.532G>C MANE Select	NP_005227.1:p.Val178Leu
ENST00000311895.8:c.532G>C MANE Select	ENSP00000310520.7:p.Val178Leu
NM_005236.2:c.532G>C , LRG_463t1:c.532G>C	NP_005227.1:p.Val178Leu
ENST00000311895.7:c.532G>C	ENSP00000310520.7:p.Val178Leu
ENST00000574194.1:c.153G>C
ENST00000575156.5:c.532G>C	ENSP00000459933.1:p.Val178Leu
ENST00000576348.1:n.507G>C
ENST00000682552.1:n.520G>C
ENST00000682568.1:n.462G>C
ENST00000682617.1:c.670G>C	ENSP00000507912.1:p.Val224Leu
ENST00000682826.1:c.532G>C	ENSP00000507274.1:p.Val178Leu
ENST00000682909.1:n.2572G>C
ENST00000683277.1:n.2177G>C
ENST00000683407.1:n.540G>C
ENST00000683962.1:c.*226G>C	ENSP00000506854.1:n.*226G>C
XM_011522424.1:c.670G>C	XP_011520726.1:p.Val224Leu
XM_011522424.3:c.670G>C	XP_011520726.1:p.Val224Leu
XM_011522425.1:c.-12G>C	XP_011520727.1:n.-12G>C
XM_017023043.2:c.-406G>C	XP_016878532.1:n.-406G>C
XR_932805.1:n.691G>C