Canonical Allele Identifier: CA2209073229

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935545T= , CM000678.2:g.13935545T=	GRCh38
NC_000016.9:g.14029402T= , CM000678.1:g.14029402T=	GRCh37
NC_000016.8:g.13936903T=	NCBI36
NG_011442.1:g.20389T= , LRG_463:g.20389T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1691T=
ENST00000682617.1:c.1751T=	ENSP00000507912.1:p.Leu584=
ENST00000682826.1:c.*927T=	ENSP00000507274.1:n.*927T=
ENST00000682909.1:n.3653T=
ENST00000683277.1:n.3258T=
ENST00000683407.1:n.1621T=
ENST00000683962.1:c.*1307T=	ENSP00000506854.1:n.*1307T=
ENST00000311895.8:c.1613T= MANE Select	ENSP00000310520.7:p.Leu538=
ENST00000311895.7:c.1613T=	ENSP00000310520.7:p.Leu538=
ENST00000389138.7:n.890T=
NM_005236.2:c.1613T= , LRG_463t1:c.1613T=	NP_005227.1:p.Leu538=
XM_011522424.1:c.1751T=	XP_011520726.1:p.Leu584=
XM_011522425.1:c.1070T=	XP_011520727.1:p.Leu357=
XM_011522426.1:c.824T=	XP_011520728.1:p.Leu275=
XM_011522427.1:c.263T=	XP_011520729.1:p.Leu88=
XR_932805.1:n.1772T=
XM_011522424.3:c.1751T=	XP_011520726.1:p.Leu584=
XM_017023043.2:c.824T=	XP_016878532.1:p.Leu275=
NM_005236.3:c.1613T= MANE Select	NP_005227.1:p.Leu538=