Canonical Allele Identifier: CA394821617

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947686C>T , CM000678.2:g.13947686C>T	GRCh38
NC_000016.9:g.14041543C>T , CM000678.1:g.14041543C>T	GRCh37
NC_000016.8:g.13949044C>T	NCBI36
NG_011442.1:g.32530C>T , LRG_463:g.32530C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2090C>T MANE Select	NP_005227.1:p.Ser697Phe
ENST00000311895.8:c.2090C>T MANE Select	ENSP00000310520.7:p.Ser697Phe
NM_005236.2:c.2090C>T , LRG_463t1:c.2090C>T	NP_005227.1:p.Ser697Phe
ENST00000311895.7:c.2090C>T	ENSP00000310520.7:p.Ser697Phe
ENST00000389138.7:n.1367C>T
ENST00000462862.1:c.403C>T	ENSP00000461322.1:n.403C>T
ENST00000682617.1:c.2228C>T	ENSP00000507912.1:p.Ser743Phe
ENST00000683962.1:c.*1784C>T	ENSP00000506854.1:n.*1784C>T
XM_011522424.1:c.2228C>T	XP_011520726.1:p.Ser743Phe
XM_011522424.3:c.2228C>T	XP_011520726.1:p.Ser743Phe
XM_011522425.1:c.1547C>T	XP_011520727.1:p.Ser516Phe
XM_011522426.1:c.1301C>T	XP_011520728.1:p.Ser434Phe
XM_011522427.1:c.740C>T	XP_011520729.1:p.Ser247Phe
XM_017023043.2:c.1301C>T	XP_016878532.1:p.Ser434Phe
XR_932805.1:n.2249C>T