Canonical Allele Identifier: CA493689735

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947774C>T , CM000678.2:g.13947774C>T	GRCh38
NC_000016.9:g.14041631C>T , CM000678.1:g.14041631C>T	GRCh37
NC_000016.8:g.13949132C>T	NCBI36
NG_011442.1:g.32618C>T , LRG_463:g.32618C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2178C>T MANE Select	NP_005227.1:p.Arg726=
ENST00000311895.8:c.2178C>T MANE Select	ENSP00000310520.7:p.Arg726=
NM_005236.2:c.2178C>T , LRG_463t1:c.2178C>T	NP_005227.1:p.Arg726=
ENST00000311895.7:c.2178C>T	ENSP00000310520.7:p.Arg726=
ENST00000389138.7:n.1455C>T
ENST00000462862.1:c.491C>T	ENSP00000461322.1:n.491C>T
ENST00000682617.1:c.2316C>T	ENSP00000507912.1:p.Arg772=
ENST00000683962.1:c.*1872C>T	ENSP00000506854.1:n.*1872C>T
XM_011522424.1:c.2316C>T	XP_011520726.1:p.Arg772=
XM_011522424.3:c.2316C>T	XP_011520726.1:p.Arg772=
XM_011522425.1:c.1635C>T	XP_011520727.1:p.Arg545=
XM_011522426.1:c.1389C>T	XP_011520728.1:p.Arg463=
XM_011522427.1:c.828C>T	XP_011520729.1:p.Arg276=
XM_017023043.2:c.1389C>T	XP_016878532.1:p.Arg463=
XR_932805.1:n.2337C>T