Canonical Allele Identifier: CA2209073027

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935425T= , CM000678.2:g.13935425T=	GRCh38
NC_000016.9:g.14029282T= , CM000678.1:g.14029282T=	GRCh37
NC_000016.8:g.13936783T=	NCBI36
NG_011442.1:g.20269T= , LRG_463:g.20269T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1571T=
ENST00000682617.1:c.1631T=	ENSP00000507912.1:p.Val544=
ENST00000682826.1:c.*807T=	ENSP00000507274.1:n.*807T=
ENST00000682909.1:n.3533T=
ENST00000683277.1:n.3138T=
ENST00000683407.1:n.1501T=
ENST00000683962.1:c.*1187T=	ENSP00000506854.1:n.*1187T=
ENST00000311895.8:c.1493T= MANE Select	ENSP00000310520.7:p.Val498=
ENST00000311895.7:c.1493T=	ENSP00000310520.7:p.Val498=
ENST00000389138.7:n.770T=
NM_005236.2:c.1493T= , LRG_463t1:c.1493T=	NP_005227.1:p.Val498=
XM_011522424.1:c.1631T=	XP_011520726.1:p.Val544=
XM_011522425.1:c.950T=	XP_011520727.1:p.Val317=
XM_011522426.1:c.704T=	XP_011520728.1:p.Val235=
XM_011522427.1:c.143T=	XP_011520729.1:p.Val48=
XR_932805.1:n.1652T=
XM_011522424.3:c.1631T=	XP_011520726.1:p.Val544=
XM_017023043.2:c.704T=	XP_016878532.1:p.Val235=
NM_005236.3:c.1493T= MANE Select	NP_005227.1:p.Val498=