Canonical Allele Identifier: CA2209073546
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935730G= , CM000678.2:g.13935730G= GRCh38
NC_000016.9:g.14029587G= , CM000678.1:g.14029587G= GRCh37
NC_000016.8:g.13937088G= NCBI36
NG_011442.1:g.20574G= , LRG_463:g.20574G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1876G=
ENST00000682617.1:c.1936G= ENSP00000507912.1:p.Gly646=
ENST00000682826.1:c.*1112G= ENSP00000507274.1:n.*1112G=
ENST00000682909.1:n.3838G=
ENST00000683277.1:n.3443G=
ENST00000683407.1:n.1806G=
ENST00000683962.1:c.*1492G= ENSP00000506854.1:n.*1492G=
ENST00000311895.8:c.1798G= MANE Select ENSP00000310520.7:p.Gly600=
ENST00000311895.7:c.1798G= ENSP00000310520.7:p.Gly600=
ENST00000389138.7:n.1075G=
NM_005236.2:c.1798G= , LRG_463t1:c.1798G= NP_005227.1:p.Gly600=
XM_011522424.1:c.1936G= XP_011520726.1:p.Gly646=
XM_011522425.1:c.1255G= XP_011520727.1:p.Gly419=
XM_011522426.1:c.1009G= XP_011520728.1:p.Gly337=
XM_011522427.1:c.448G= XP_011520729.1:p.Gly150=
XR_932805.1:n.1957G=
XM_011522424.3:c.1936G= XP_011520726.1:p.Gly646=
XM_017023043.2:c.1009G= XP_016878532.1:p.Gly337=
NM_005236.3:c.1798G= MANE Select NP_005227.1:p.Gly600=