Canonical Allele Identifier: CA2209073331

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935606G= , CM000678.2:g.13935606G=	GRCh38
NC_000016.9:g.14029463G= , CM000678.1:g.14029463G=	GRCh37
NC_000016.8:g.13936964G=	NCBI36
NG_011442.1:g.20450G= , LRG_463:g.20450G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1752G=
ENST00000682617.1:c.1812G=	ENSP00000507912.1:p.Leu604=
ENST00000682826.1:c.*988G=	ENSP00000507274.1:n.*988G=
ENST00000682909.1:n.3714G=
ENST00000683277.1:n.3319G=
ENST00000683407.1:n.1682G=
ENST00000683962.1:c.*1368G=	ENSP00000506854.1:n.*1368G=
ENST00000311895.8:c.1674G= MANE Select	ENSP00000310520.7:p.Leu558=
ENST00000311895.7:c.1674G=	ENSP00000310520.7:p.Leu558=
ENST00000389138.7:n.951G=
NM_005236.2:c.1674G= , LRG_463t1:c.1674G=	NP_005227.1:p.Leu558=
XM_011522424.1:c.1812G=	XP_011520726.1:p.Leu604=
XM_011522425.1:c.1131G=	XP_011520727.1:p.Leu377=
XM_011522426.1:c.885G=	XP_011520728.1:p.Leu295=
XM_011522427.1:c.324G=	XP_011520729.1:p.Leu108=
XR_932805.1:n.1833G=
XM_011522424.3:c.1812G=	XP_011520726.1:p.Leu604=
XM_017023043.2:c.885G=	XP_016878532.1:p.Leu295=
NM_005236.3:c.1674G= MANE Select	NP_005227.1:p.Leu558=