Canonical Allele Identifier: CA2209073042

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935439G= , CM000678.2:g.13935439G=	GRCh38
NC_000016.9:g.14029296G= , CM000678.1:g.14029296G=	GRCh37
NC_000016.8:g.13936797G=	NCBI36
NG_011442.1:g.20283G= , LRG_463:g.20283G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1585G=
ENST00000682617.1:c.1645G=	ENSP00000507912.1:p.Glu549=
ENST00000682826.1:c.*821G=	ENSP00000507274.1:n.*821G=
ENST00000682909.1:n.3547G=
ENST00000683277.1:n.3152G=
ENST00000683407.1:n.1515G=
ENST00000683962.1:c.*1201G=	ENSP00000506854.1:n.*1201G=
ENST00000311895.8:c.1507G= MANE Select	ENSP00000310520.7:p.Glu503=
ENST00000311895.7:c.1507G=	ENSP00000310520.7:p.Glu503=
ENST00000389138.7:n.784G=
NM_005236.2:c.1507G= , LRG_463t1:c.1507G=	NP_005227.1:p.Glu503=
XM_011522424.1:c.1645G=	XP_011520726.1:p.Glu549=
XM_011522425.1:c.964G=	XP_011520727.1:p.Glu322=
XM_011522426.1:c.718G=	XP_011520728.1:p.Glu240=
XM_011522427.1:c.157G=	XP_011520729.1:p.Glu53=
XR_932805.1:n.1666G=
XM_011522424.3:c.1645G=	XP_011520726.1:p.Glu549=
XM_017023043.2:c.718G=	XP_016878532.1:p.Glu240=
NM_005236.3:c.1507G= MANE Select	NP_005227.1:p.Glu503=