Canonical Allele Identifier: CA2209073396

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935638T= , CM000678.2:g.13935638T=	GRCh38
NC_000016.9:g.14029495T= , CM000678.1:g.14029495T=	GRCh37
NC_000016.8:g.13936996T=	NCBI36
NG_011442.1:g.20482T= , LRG_463:g.20482T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1784T=
ENST00000682617.1:c.1844T=	ENSP00000507912.1:p.Val615=
ENST00000682826.1:c.*1020T=	ENSP00000507274.1:n.*1020T=
ENST00000682909.1:n.3746T=
ENST00000683277.1:n.3351T=
ENST00000683407.1:n.1714T=
ENST00000683962.1:c.*1400T=	ENSP00000506854.1:n.*1400T=
ENST00000311895.8:c.1706T= MANE Select	ENSP00000310520.7:p.Val569=
ENST00000311895.7:c.1706T=	ENSP00000310520.7:p.Val569=
ENST00000389138.7:n.983T=
NM_005236.2:c.1706T= , LRG_463t1:c.1706T=	NP_005227.1:p.Val569=
XM_011522424.1:c.1844T=	XP_011520726.1:p.Val615=
XM_011522425.1:c.1163T=	XP_011520727.1:p.Val388=
XM_011522426.1:c.917T=	XP_011520728.1:p.Val306=
XM_011522427.1:c.356T=	XP_011520729.1:p.Val119=
XR_932805.1:n.1865T=
XM_011522424.3:c.1844T=	XP_011520726.1:p.Val615=
XM_017023043.2:c.917T=	XP_016878532.1:p.Val306=
NM_005236.3:c.1706T= MANE Select	NP_005227.1:p.Val569=