Canonical Allele Identifier: CA3222146663
Community Standard Title: NM_005236.3(ERCC4):c.2162A= (p.Glu721=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947758A= , CM000678.2:g.13947758A= GRCh38
NC_000016.9:g.14041615A= , CM000678.1:g.14041615A= GRCh37
NC_000016.8:g.13949116A= NCBI36
NG_011442.1:g.32602A= , LRG_463:g.32602A=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2162A= MANE Select NP_005227.1:p.Glu721=
ENST00000311895.8:c.2162A= MANE Select ENSP00000310520.7:p.Glu721=
NM_005236.2:c.2162A= , LRG_463t1:c.2162A= NP_005227.1:p.Glu721=
ENST00000311895.7:c.2162A= ENSP00000310520.7:p.Glu721=
ENST00000389138.7:n.1439A=
ENST00000462862.1:c.475A= ENSP00000461322.1:n.475A=
ENST00000682617.1:c.2300A= ENSP00000507912.1:p.Glu767=
ENST00000683962.1:c.*1856A= ENSP00000506854.1:n.*1856A=
XM_011522424.1:c.2300A= XP_011520726.1:p.Glu767=
XM_011522424.3:c.2300A= XP_011520726.1:p.Glu767=
XM_011522425.1:c.1619A= XP_011520727.1:p.Glu540=
XM_011522426.1:c.1373A= XP_011520728.1:p.Glu458=
XM_011522427.1:c.812A= XP_011520729.1:p.Glu271=
XM_017023043.2:c.1373A= XP_016878532.1:p.Glu458=
XR_932805.1:n.2321A=