Canonical Allele Identifier: CA7910215

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13926709A>G , CM000678.2:g.13926709A>G	GRCh38
NC_000016.9:g.14020566A>G , CM000678.1:g.14020566A>G	GRCh37
NC_000016.8:g.13928067A>G	NCBI36
NG_011442.1:g.11553A>G , LRG_463:g.11553A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.537A>G MANE Select	NP_005227.1:p.Glu179=
ENST00000311895.8:c.537A>G MANE Select	ENSP00000310520.7:p.Glu179=
NM_005236.2:c.537A>G , LRG_463t1:c.537A>G	NP_005227.1:p.Glu179=
ENST00000311895.7:c.537A>G	ENSP00000310520.7:p.Glu179=
ENST00000574194.1:c.158A>G
ENST00000575156.5:c.537A>G	ENSP00000459933.1:p.Glu179=
ENST00000576348.1:n.512A>G
ENST00000682552.1:n.525A>G
ENST00000682568.1:n.467A>G
ENST00000682617.1:c.675A>G	ENSP00000507912.1:p.Glu225=
ENST00000682826.1:c.537A>G	ENSP00000507274.1:p.Glu179=
ENST00000682909.1:n.2577A>G
ENST00000683277.1:n.2182A>G
ENST00000683407.1:n.545A>G
ENST00000683962.1:c.*231A>G	ENSP00000506854.1:n.*231A>G
XM_011522424.1:c.675A>G	XP_011520726.1:p.Glu225=
XM_011522424.3:c.675A>G	XP_011520726.1:p.Glu225=
XM_011522425.1:c.-7A>G	XP_011520727.1:n.-7A>G
XM_017023043.2:c.-401A>G	XP_016878532.1:n.-401A>G
XR_932805.1:n.696A>G