Canonical Allele Identifier: CA394822739

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947865C>A , CM000678.2:g.13947865C>A	GRCh38
NC_000016.9:g.14041722C>A , CM000678.1:g.14041722C>A	GRCh37
NC_000016.8:g.13949223C>A	NCBI36
NG_011442.1:g.32709C>A , LRG_463:g.32709C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2269C>A MANE Select	NP_005227.1:p.Leu757Ile
ENST00000311895.8:c.2269C>A MANE Select	ENSP00000310520.7:p.Leu757Ile
NM_005236.2:c.2269C>A , LRG_463t1:c.2269C>A	NP_005227.1:p.Leu757Ile
ENST00000311895.7:c.2269C>A	ENSP00000310520.7:p.Leu757Ile
ENST00000389138.7:n.1546C>A
ENST00000462862.1:c.582C>A	ENSP00000461322.1:n.582C>A
ENST00000682617.1:c.2407C>A	ENSP00000507912.1:p.Leu803Ile
ENST00000683962.1:c.*1963C>A	ENSP00000506854.1:n.*1963C>A
XM_011522424.1:c.2407C>A	XP_011520726.1:p.Leu803Ile
XM_011522424.3:c.2407C>A	XP_011520726.1:p.Leu803Ile
XM_011522425.1:c.1726C>A	XP_011520727.1:p.Leu576Ile
XM_011522426.1:c.1480C>A	XP_011520728.1:p.Leu494Ile
XM_011522427.1:c.919C>A	XP_011520729.1:p.Leu307Ile
XM_017023043.2:c.1480C>A	XP_016878532.1:p.Leu494Ile
XR_932805.1:n.2428C>A