Canonical Allele Identifier: CA2209073480

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935682G= , CM000678.2:g.13935682G=	GRCh38
NC_000016.9:g.14029539G= , CM000678.1:g.14029539G=	GRCh37
NC_000016.8:g.13937040G=	NCBI36
NG_011442.1:g.20526G= , LRG_463:g.20526G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1828G=
ENST00000682617.1:c.1888G=	ENSP00000507912.1:p.Glu630=
ENST00000682826.1:c.*1064G=	ENSP00000507274.1:n.*1064G=
ENST00000682909.1:n.3790G=
ENST00000683277.1:n.3395G=
ENST00000683407.1:n.1758G=
ENST00000683962.1:c.*1444G=	ENSP00000506854.1:n.*1444G=
ENST00000311895.8:c.1750G= MANE Select	ENSP00000310520.7:p.Glu584=
ENST00000311895.7:c.1750G=	ENSP00000310520.7:p.Glu584=
ENST00000389138.7:n.1027G=
NM_005236.2:c.1750G= , LRG_463t1:c.1750G=	NP_005227.1:p.Glu584=
XM_011522424.1:c.1888G=	XP_011520726.1:p.Glu630=
XM_011522425.1:c.1207G=	XP_011520727.1:p.Glu403=
XM_011522426.1:c.961G=	XP_011520728.1:p.Glu321=
XM_011522427.1:c.400G=	XP_011520729.1:p.Glu134=
XR_932805.1:n.1909G=
XM_011522424.3:c.1888G=	XP_011520726.1:p.Glu630=
XM_017023043.2:c.961G=	XP_016878532.1:p.Glu321=
NM_005236.3:c.1750G= MANE Select	NP_005227.1:p.Glu584=