Canonical Allele Identifier: CA2209082791
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947944A= , CM000678.2:g.13947944A= GRCh38
NC_000016.9:g.14041801A= , CM000678.1:g.14041801A= GRCh37
NC_000016.8:g.13949302A= NCBI36
NG_011442.1:g.32788A= , LRG_463:g.32788A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2486A= ENSP00000507912.1:p.Asp829=
ENST00000683962.1:c.*2042A= ENSP00000506854.1:n.*2042A=
ENST00000311895.8:c.2348A= MANE Select ENSP00000310520.7:p.Asp783=
ENST00000311895.7:c.2348A= ENSP00000310520.7:p.Asp783=
ENST00000389138.7:n.1625A=
ENST00000462862.1:c.661A= ENSP00000461322.1:n.661A=
NM_005236.2:c.2348A= , LRG_463t1:c.2348A= NP_005227.1:p.Asp783=
XM_011522424.1:c.2486A= XP_011520726.1:p.Asp829=
XM_011522425.1:c.1805A= XP_011520727.1:p.Asp602=
XM_011522426.1:c.1559A= XP_011520728.1:p.Asp520=
XM_011522427.1:c.998A= XP_011520729.1:p.Asp333=
XR_932805.1:n.2507A=
XM_011522424.3:c.2486A= XP_011520726.1:p.Asp829=
XM_017023043.2:c.1559A= XP_016878532.1:p.Asp520=
NM_005236.3:c.2348A= MANE Select NP_005227.1:p.Asp783=