Canonical Allele Identifier: CA2209065794

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13928198T= , CM000678.2:g.13928198T=	GRCh38
NC_000016.9:g.14022055T= , CM000678.1:g.14022055T=	GRCh37
NC_000016.8:g.13929556T=	NCBI36
NG_011442.1:g.13042T= , LRG_463:g.13042T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.743T=
ENST00000682568.1:n.685T=
ENST00000682617.1:c.893T=	ENSP00000507912.1:p.Leu298=
ENST00000682826.1:c.755T=	ENSP00000507274.1:p.Leu252=
ENST00000682909.1:n.2795T=
ENST00000683277.1:n.2400T=
ENST00000683407.1:n.763T=
ENST00000683962.1:c.*449T=	ENSP00000506854.1:n.*449T=
ENST00000311895.8:c.755T= MANE Select	ENSP00000310520.7:p.Leu252=
ENST00000311895.7:c.755T=	ENSP00000310520.7:p.Leu252=
ENST00000574194.1:c.282T=
ENST00000574781.1:n.432T=
ENST00000575156.5:c.755T=	ENSP00000459933.1:p.Leu252=
NM_005236.2:c.755T= , LRG_463t1:c.755T=	NP_005227.1:p.Leu252=
XM_011522424.1:c.893T=	XP_011520726.1:p.Leu298=
XM_011522425.1:c.212T=	XP_011520727.1:p.Leu71=
XR_932805.1:n.914T=
XM_011522424.3:c.893T=	XP_011520726.1:p.Leu298=
XM_017023043.2:c.-183T=	XP_016878532.1:n.-183T=
NM_005236.3:c.755T= MANE Select	NP_005227.1:p.Leu252=