Canonical Allele Identifier: CA2209073279

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935573G= , CM000678.2:g.13935573G=	GRCh38
NC_000016.9:g.14029430G= , CM000678.1:g.14029430G=	GRCh37
NC_000016.8:g.13936931G=	NCBI36
NG_011442.1:g.20417G= , LRG_463:g.20417G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1719G=
ENST00000682617.1:c.1779G=	ENSP00000507912.1:p.Leu593=
ENST00000682826.1:c.*955G=	ENSP00000507274.1:n.*955G=
ENST00000682909.1:n.3681G=
ENST00000683277.1:n.3286G=
ENST00000683407.1:n.1649G=
ENST00000683962.1:c.*1335G=	ENSP00000506854.1:n.*1335G=
ENST00000311895.8:c.1641G= MANE Select	ENSP00000310520.7:p.Leu547=
ENST00000311895.7:c.1641G=	ENSP00000310520.7:p.Leu547=
ENST00000389138.7:n.918G=
NM_005236.2:c.1641G= , LRG_463t1:c.1641G=	NP_005227.1:p.Leu547=
XM_011522424.1:c.1779G=	XP_011520726.1:p.Leu593=
XM_011522425.1:c.1098G=	XP_011520727.1:p.Leu366=
XM_011522426.1:c.852G=	XP_011520728.1:p.Leu284=
XM_011522427.1:c.291G=	XP_011520729.1:p.Leu97=
XR_932805.1:n.1800G=
XM_011522424.3:c.1779G=	XP_011520726.1:p.Leu593=
XM_017023043.2:c.852G=	XP_016878532.1:p.Leu284=
NM_005236.3:c.1641G= MANE Select	NP_005227.1:p.Leu547=