Canonical Allele Identifier: CA3218935823
Community Standard Title: NM_005236.3(ERCC4):c.2144A= (p.Asp715=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947740A= , CM000678.2:g.13947740A= GRCh38
NC_000016.9:g.14041597A= , CM000678.1:g.14041597A= GRCh37
NC_000016.8:g.13949098A= NCBI36
NG_011442.1:g.32584A= , LRG_463:g.32584A=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2144A= MANE Select NP_005227.1:p.Asp715=
ENST00000311895.8:c.2144A= MANE Select ENSP00000310520.7:p.Asp715=
NM_005236.2:c.2144A= , LRG_463t1:c.2144A= NP_005227.1:p.Asp715=
ENST00000311895.7:c.2144A= ENSP00000310520.7:p.Asp715=
ENST00000389138.7:n.1421A=
ENST00000462862.1:c.457A= ENSP00000461322.1:n.457A=
ENST00000682617.1:c.2282A= ENSP00000507912.1:p.Asp761=
ENST00000683962.1:c.*1838A= ENSP00000506854.1:n.*1838A=
XM_011522424.1:c.2282A= XP_011520726.1:p.Asp761=
XM_011522424.3:c.2282A= XP_011520726.1:p.Asp761=
XM_011522425.1:c.1601A= XP_011520727.1:p.Asp534=
XM_011522426.1:c.1355A= XP_011520728.1:p.Asp452=
XM_011522427.1:c.794A= XP_011520729.1:p.Asp265=
XM_017023043.2:c.1355A= XP_016878532.1:p.Asp452=
XR_932805.1:n.2303A=