Canonical Allele Identifier: CA2209073458

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935672T= , CM000678.2:g.13935672T=	GRCh38
NC_000016.9:g.14029529T= , CM000678.1:g.14029529T=	GRCh37
NC_000016.8:g.13937030T=	NCBI36
NG_011442.1:g.20516T= , LRG_463:g.20516T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1818T=
ENST00000682617.1:c.1878T=	ENSP00000507912.1:p.Leu626=
ENST00000682826.1:c.*1054T=	ENSP00000507274.1:n.*1054T=
ENST00000682909.1:n.3780T=
ENST00000683277.1:n.3385T=
ENST00000683407.1:n.1748T=
ENST00000683962.1:c.*1434T=	ENSP00000506854.1:n.*1434T=
ENST00000311895.8:c.1740T= MANE Select	ENSP00000310520.7:p.Leu580=
ENST00000311895.7:c.1740T=	ENSP00000310520.7:p.Leu580=
ENST00000389138.7:n.1017T=
NM_005236.2:c.1740T= , LRG_463t1:c.1740T=	NP_005227.1:p.Leu580=
XM_011522424.1:c.1878T=	XP_011520726.1:p.Leu626=
XM_011522425.1:c.1197T=	XP_011520727.1:p.Leu399=
XM_011522426.1:c.951T=	XP_011520728.1:p.Leu317=
XM_011522427.1:c.390T=	XP_011520729.1:p.Leu130=
XR_932805.1:n.1899T=
XM_011522424.3:c.1878T=	XP_011520726.1:p.Leu626=
XM_017023043.2:c.951T=	XP_016878532.1:p.Leu317=
NM_005236.3:c.1740T= MANE Select	NP_005227.1:p.Leu580=