Canonical Allele Identifier: CA2209073382

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935632C= , CM000678.2:g.13935632C=	GRCh38
NC_000016.9:g.14029489C= , CM000678.1:g.14029489C=	GRCh37
NC_000016.8:g.13936990C=	NCBI36
NG_011442.1:g.20476C= , LRG_463:g.20476C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1778C=
ENST00000682617.1:c.1838C=	ENSP00000507912.1:p.Thr613=
ENST00000682826.1:c.*1014C=	ENSP00000507274.1:n.*1014C=
ENST00000682909.1:n.3740C=
ENST00000683277.1:n.3345C=
ENST00000683407.1:n.1708C=
ENST00000683962.1:c.*1394C=	ENSP00000506854.1:n.*1394C=
ENST00000311895.8:c.1700C= MANE Select	ENSP00000310520.7:p.Thr567=
ENST00000311895.7:c.1700C=	ENSP00000310520.7:p.Thr567=
ENST00000389138.7:n.977C=
NM_005236.2:c.1700C= , LRG_463t1:c.1700C=	NP_005227.1:p.Thr567=
XM_011522424.1:c.1838C=	XP_011520726.1:p.Thr613=
XM_011522425.1:c.1157C=	XP_011520727.1:p.Thr386=
XM_011522426.1:c.911C=	XP_011520728.1:p.Thr304=
XM_011522427.1:c.350C=	XP_011520729.1:p.Thr117=
XR_932805.1:n.1859C=
XM_011522424.3:c.1838C=	XP_011520726.1:p.Thr613=
XM_017023043.2:c.911C=	XP_016878532.1:p.Thr304=
NM_005236.3:c.1700C= MANE Select	NP_005227.1:p.Thr567=