Canonical Allele Identifier: CA394822378

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947780T>G , CM000678.2:g.13947780T>G	GRCh38
NC_000016.9:g.14041637T>G , CM000678.1:g.14041637T>G	GRCh37
NC_000016.8:g.13949138T>G	NCBI36
NG_011442.1:g.32624T>G , LRG_463:g.32624T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2184T>G MANE Select	NP_005227.1:p.Ser728Arg
ENST00000311895.8:c.2184T>G MANE Select	ENSP00000310520.7:p.Ser728Arg
NM_005236.2:c.2184T>G , LRG_463t1:c.2184T>G	NP_005227.1:p.Ser728Arg
ENST00000311895.7:c.2184T>G	ENSP00000310520.7:p.Ser728Arg
ENST00000389138.7:n.1461T>G
ENST00000462862.1:c.497T>G	ENSP00000461322.1:n.497T>G
ENST00000682617.1:c.2322T>G	ENSP00000507912.1:p.Ser774Arg
ENST00000683962.1:c.*1878T>G	ENSP00000506854.1:n.*1878T>G
XM_011522424.1:c.2322T>G	XP_011520726.1:p.Ser774Arg
XM_011522424.3:c.2322T>G	XP_011520726.1:p.Ser774Arg
XM_011522425.1:c.1641T>G	XP_011520727.1:p.Ser547Arg
XM_011522426.1:c.1395T>G	XP_011520728.1:p.Ser465Arg
XM_011522427.1:c.834T>G	XP_011520729.1:p.Ser278Arg
XM_017023043.2:c.1395T>G	XP_016878532.1:p.Ser465Arg
XR_932805.1:n.2343T>G