Canonical Allele Identifier: CA493689752

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947795C>A , CM000678.2:g.13947795C>A	GRCh38
NC_000016.9:g.14041652C>A , CM000678.1:g.14041652C>A	GRCh37
NC_000016.8:g.13949153C>A	NCBI36
NG_011442.1:g.32639C>A , LRG_463:g.32639C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2199C>A MANE Select	NP_005227.1:p.Ile733=
ENST00000311895.8:c.2199C>A MANE Select	ENSP00000310520.7:p.Ile733=
NM_005236.2:c.2199C>A , LRG_463t1:c.2199C>A	NP_005227.1:p.Ile733=
ENST00000311895.7:c.2199C>A	ENSP00000310520.7:p.Ile733=
ENST00000389138.7:n.1476C>A
ENST00000462862.1:c.512C>A	ENSP00000461322.1:n.512C>A
ENST00000682617.1:c.2337C>A	ENSP00000507912.1:p.Ile779=
ENST00000683962.1:c.*1893C>A	ENSP00000506854.1:n.*1893C>A
XM_011522424.1:c.2337C>A	XP_011520726.1:p.Ile779=
XM_011522424.3:c.2337C>A	XP_011520726.1:p.Ile779=
XM_011522425.1:c.1656C>A	XP_011520727.1:p.Ile552=
XM_011522426.1:c.1410C>A	XP_011520728.1:p.Ile470=
XM_011522427.1:c.849C>A	XP_011520729.1:p.Ile283=
XM_017023043.2:c.1410C>A	XP_016878532.1:p.Ile470=
XR_932805.1:n.2358C>A