Canonical Allele Identifier: CA2209073093
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935473A= , CM000678.2:g.13935473A= GRCh38
NC_000016.9:g.14029330A= , CM000678.1:g.14029330A= GRCh37
NC_000016.8:g.13936831A= NCBI36
NG_011442.1:g.20317A= , LRG_463:g.20317A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1619A=
ENST00000682617.1:c.1679A= ENSP00000507912.1:p.Tyr560=
ENST00000682826.1:c.*855A= ENSP00000507274.1:n.*855A=
ENST00000682909.1:n.3581A=
ENST00000683277.1:n.3186A=
ENST00000683407.1:n.1549A=
ENST00000683962.1:c.*1235A= ENSP00000506854.1:n.*1235A=
ENST00000311895.8:c.1541A= MANE Select ENSP00000310520.7:p.Tyr514=
ENST00000311895.7:c.1541A= ENSP00000310520.7:p.Tyr514=
ENST00000389138.7:n.818A=
NM_005236.2:c.1541A= , LRG_463t1:c.1541A= NP_005227.1:p.Tyr514=
XM_011522424.1:c.1679A= XP_011520726.1:p.Tyr560=
XM_011522425.1:c.998A= XP_011520727.1:p.Tyr333=
XM_011522426.1:c.752A= XP_011520728.1:p.Tyr251=
XM_011522427.1:c.191A= XP_011520729.1:p.Tyr64=
XR_932805.1:n.1700A=
XM_011522424.3:c.1679A= XP_011520726.1:p.Tyr560=
XM_017023043.2:c.752A= XP_016878532.1:p.Tyr251=
NM_005236.3:c.1541A= MANE Select NP_005227.1:p.Tyr514=