Canonical Allele Identifier: CA2209073057

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935451G= , CM000678.2:g.13935451G=	GRCh38
NC_000016.9:g.14029308G= , CM000678.1:g.14029308G=	GRCh37
NC_000016.8:g.13936809G=	NCBI36
NG_011442.1:g.20295G= , LRG_463:g.20295G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1597G=
ENST00000682617.1:c.1657G=	ENSP00000507912.1:p.Glu553=
ENST00000682826.1:c.*833G=	ENSP00000507274.1:n.*833G=
ENST00000682909.1:n.3559G=
ENST00000683277.1:n.3164G=
ENST00000683407.1:n.1527G=
ENST00000683962.1:c.*1213G=	ENSP00000506854.1:n.*1213G=
ENST00000311895.8:c.1519G= MANE Select	ENSP00000310520.7:p.Glu507=
ENST00000311895.7:c.1519G=	ENSP00000310520.7:p.Glu507=
ENST00000389138.7:n.796G=
NM_005236.2:c.1519G= , LRG_463t1:c.1519G=	NP_005227.1:p.Glu507=
XM_011522424.1:c.1657G=	XP_011520726.1:p.Glu553=
XM_011522425.1:c.976G=	XP_011520727.1:p.Glu326=
XM_011522426.1:c.730G=	XP_011520728.1:p.Glu244=
XM_011522427.1:c.169G=	XP_011520729.1:p.Glu57=
XR_932805.1:n.1678G=
XM_011522424.3:c.1657G=	XP_011520726.1:p.Glu553=
XM_017023043.2:c.730G=	XP_016878532.1:p.Glu244=
NM_005236.3:c.1519G= MANE Select	NP_005227.1:p.Glu507=