Canonical Allele Identifier: CA3222146976
Community Standard Title: NM_005236.3(ERCC4):c.2279A= (p.Glu760=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947875A= , CM000678.2:g.13947875A= GRCh38
NC_000016.9:g.14041732A= , CM000678.1:g.14041732A= GRCh37
NC_000016.8:g.13949233A= NCBI36
NG_011442.1:g.32719A= , LRG_463:g.32719A=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2279A= MANE Select NP_005227.1:p.Glu760=
ENST00000311895.8:c.2279A= MANE Select ENSP00000310520.7:p.Glu760=
NM_005236.2:c.2279A= , LRG_463t1:c.2279A= NP_005227.1:p.Glu760=
ENST00000311895.7:c.2279A= ENSP00000310520.7:p.Glu760=
ENST00000389138.7:n.1556A=
ENST00000462862.1:c.592A= ENSP00000461322.1:n.592A=
ENST00000682617.1:c.2417A= ENSP00000507912.1:p.Glu806=
ENST00000683962.1:c.*1973A= ENSP00000506854.1:n.*1973A=
XM_011522424.1:c.2417A= XP_011520726.1:p.Glu806=
XM_011522424.3:c.2417A= XP_011520726.1:p.Glu806=
XM_011522425.1:c.1736A= XP_011520727.1:p.Glu579=
XM_011522426.1:c.1490A= XP_011520728.1:p.Glu497=
XM_011522427.1:c.929A= XP_011520729.1:p.Glu310=
XM_017023043.2:c.1490A= XP_016878532.1:p.Glu497=
XR_932805.1:n.2438A=