Canonical Allele Identifier: CA2209082760
Community Standard Title: NM_005236.3(ERCC4):c.2292C= (p.Ser764=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947888C= , CM000678.2:g.13947888C= GRCh38
NC_000016.9:g.14041745C= , CM000678.1:g.14041745C= GRCh37
NC_000016.8:g.13949246C= NCBI36
NG_011442.1:g.32732C= , LRG_463:g.32732C=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2292C= MANE Select NP_005227.1:p.Ser764=
ENST00000311895.8:c.2292C= MANE Select ENSP00000310520.7:p.Ser764=
NM_005236.2:c.2292C= , LRG_463t1:c.2292C= NP_005227.1:p.Ser764=
ENST00000311895.7:c.2292C= ENSP00000310520.7:p.Ser764=
ENST00000389138.7:n.1569C=
ENST00000462862.1:c.605C= ENSP00000461322.1:n.605C=
ENST00000682617.1:c.2430C= ENSP00000507912.1:p.Ser810=
ENST00000683962.1:c.*1986C= ENSP00000506854.1:n.*1986C=
XM_011522424.1:c.2430C= XP_011520726.1:p.Ser810=
XM_011522424.3:c.2430C= XP_011520726.1:p.Ser810=
XM_011522425.1:c.1749C= XP_011520727.1:p.Ser583=
XM_011522426.1:c.1503C= XP_011520728.1:p.Ser501=
XM_011522427.1:c.942C= XP_011520729.1:p.Ser314=
XM_017023043.2:c.1503C= XP_016878532.1:p.Ser501=
XR_932805.1:n.2451C=