Canonical Allele Identifier: CA2209073286
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935577G= , CM000678.2:g.13935577G= GRCh38
NC_000016.9:g.14029434G= , CM000678.1:g.14029434G= GRCh37
NC_000016.8:g.13936935G= NCBI36
NG_011442.1:g.20421G= , LRG_463:g.20421G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1723G=
ENST00000682617.1:c.1783G= ENSP00000507912.1:p.Glu595=
ENST00000682826.1:c.*959G= ENSP00000507274.1:n.*959G=
ENST00000682909.1:n.3685G=
ENST00000683277.1:n.3290G=
ENST00000683407.1:n.1653G=
ENST00000683962.1:c.*1339G= ENSP00000506854.1:n.*1339G=
ENST00000311895.8:c.1645G= MANE Select ENSP00000310520.7:p.Glu549=
ENST00000311895.7:c.1645G= ENSP00000310520.7:p.Glu549=
ENST00000389138.7:n.922G=
NM_005236.2:c.1645G= , LRG_463t1:c.1645G= NP_005227.1:p.Glu549=
XM_011522424.1:c.1783G= XP_011520726.1:p.Glu595=
XM_011522425.1:c.1102G= XP_011520727.1:p.Glu368=
XM_011522426.1:c.856G= XP_011520728.1:p.Glu286=
XM_011522427.1:c.295G= XP_011520729.1:p.Glu99=
XR_932805.1:n.1804G=
XM_011522424.3:c.1783G= XP_011520726.1:p.Glu595=
XM_017023043.2:c.856G= XP_016878532.1:p.Glu286=
NM_005236.3:c.1645G= MANE Select NP_005227.1:p.Glu549=