Canonical Allele Identifier: CA2209082886
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948147T= , CM000678.2:g.13948147T= GRCh38
NC_000016.9:g.14042004T= , CM000678.1:g.14042004T= GRCh37
NC_000016.8:g.13949505T= NCBI36
NG_011442.1:g.32991T= , LRG_463:g.32991T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2689T= ENSP00000507912.1:p.Phe897=
ENST00000683962.1:c.*2245T= ENSP00000506854.1:n.*2245T=
ENST00000311895.8:c.2551T= MANE Select ENSP00000310520.7:p.Phe851=
ENST00000311895.7:c.2551T= ENSP00000310520.7:p.Phe851=
ENST00000389138.7:n.1828T=
NM_005236.2:c.2551T= , LRG_463t1:c.2551T= NP_005227.1:p.Phe851=
XM_011522424.1:c.2689T= XP_011520726.1:p.Phe897=
XM_011522425.1:c.2008T= XP_011520727.1:p.Phe670=
XM_011522426.1:c.1762T= XP_011520728.1:p.Phe588=
XM_011522427.1:c.1201T= XP_011520729.1:p.Phe401=
XR_932805.1:n.2710T=
XM_011522424.3:c.2689T= XP_011520726.1:p.Phe897=
XM_017023043.2:c.1762T= XP_016878532.1:p.Phe588=
NM_005236.3:c.2551T= MANE Select NP_005227.1:p.Phe851=