Canonical Allele Identifier: CA7910224

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13926751G>A , CM000678.2:g.13926751G>A	GRCh38
NC_000016.9:g.14020608G>A , CM000678.1:g.14020608G>A	GRCh37
NC_000016.8:g.13928109G>A	NCBI36
NG_011442.1:g.11595G>A , LRG_463:g.11595G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.579G>A MANE Select	NP_005227.1:p.Trp193Ter
ENST00000311895.8:c.579G>A MANE Select	ENSP00000310520.7:p.Trp193Ter
NM_005236.2:c.579G>A , LRG_463t1:c.579G>A	NP_005227.1:p.Trp193Ter
ENST00000311895.7:c.579G>A	ENSP00000310520.7:p.Trp193Ter
ENST00000574194.1:c.200G>A
ENST00000575156.5:c.579G>A	ENSP00000459933.1:p.Trp193Ter
ENST00000576348.1:n.554G>A
ENST00000682552.1:n.567G>A
ENST00000682568.1:n.509G>A
ENST00000682617.1:c.717G>A	ENSP00000507912.1:p.Trp239Ter
ENST00000682826.1:c.579G>A	ENSP00000507274.1:p.Trp193Ter
ENST00000682909.1:n.2619G>A
ENST00000683277.1:n.2224G>A
ENST00000683407.1:n.587G>A
ENST00000683962.1:c.*273G>A	ENSP00000506854.1:n.*273G>A
XM_011522424.1:c.717G>A	XP_011520726.1:p.Trp239Ter
XM_011522424.3:c.717G>A	XP_011520726.1:p.Trp239Ter
XM_011522425.1:c.36G>A	XP_011520727.1:p.Trp12Ter
XM_017023043.2:c.-359G>A	XP_016878532.1:n.-359G>A
XR_932805.1:n.738G>A