Canonical Allele Identifier: CA2209072576
Community Standard Title: NM_005236.3(ERCC4):c.1244G= (p.Arg415=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935176G= , CM000678.2:g.13935176G= GRCh38
NC_000016.9:g.14029033G= , CM000678.1:g.14029033G= GRCh37
NC_000016.8:g.13936534G= NCBI36
NG_011442.1:g.20020G= , LRG_463:g.20020G=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.1244G= MANE Select NP_005227.1:p.Arg415=
ENST00000311895.8:c.1244G= MANE Select ENSP00000310520.7:p.Arg415=
NM_005236.2:c.1244G= , LRG_463t1:c.1244G= NP_005227.1:p.Arg415=
ENST00000311895.7:c.1244G= ENSP00000310520.7:p.Arg415=
ENST00000389138.7:n.521G=
ENST00000573018.1:n.312G=
ENST00000682568.1:n.1322G=
ENST00000682617.1:c.1382G= ENSP00000507912.1:p.Arg461=
ENST00000682826.1:c.*558G= ENSP00000507274.1:n.*558G=
ENST00000682909.1:n.3284G=
ENST00000683277.1:n.2889G=
ENST00000683407.1:n.1252G=
ENST00000683962.1:c.*938G= ENSP00000506854.1:n.*938G=
XM_011522424.1:c.1382G= XP_011520726.1:p.Arg461=
XM_011522424.3:c.1382G= XP_011520726.1:p.Arg461=
XM_011522425.1:c.701G= XP_011520727.1:p.Arg234=
XM_011522426.1:c.455G= XP_011520728.1:p.Arg152=
XM_011522427.1:c.-107G= XP_011520729.1:n.-107G=
XM_017023043.2:c.455G= XP_016878532.1:p.Arg152=
XR_932805.1:n.1403G=