Canonical Allele Identifier: CA3222147175
Community Standard Title: NM_005236.3(ERCC4):c.2405G= (p.Trp802=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948001G= , CM000678.2:g.13948001G= GRCh38
NC_000016.9:g.14041858G= , CM000678.1:g.14041858G= GRCh37
NC_000016.8:g.13949359G= NCBI36
NG_011442.1:g.32845G= , LRG_463:g.32845G=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2405G= MANE Select NP_005227.1:p.Trp802=
ENST00000311895.8:c.2405G= MANE Select ENSP00000310520.7:p.Trp802=
NM_005236.2:c.2405G= , LRG_463t1:c.2405G= NP_005227.1:p.Trp802=
ENST00000311895.7:c.2405G= ENSP00000310520.7:p.Trp802=
ENST00000389138.7:n.1682G=
ENST00000462862.1:c.718G= ENSP00000461322.1:n.718G=
ENST00000682617.1:c.2543G= ENSP00000507912.1:p.Trp848=
ENST00000683962.1:c.*2099G= ENSP00000506854.1:n.*2099G=
XM_011522424.1:c.2543G= XP_011520726.1:p.Trp848=
XM_011522424.3:c.2543G= XP_011520726.1:p.Trp848=
XM_011522425.1:c.1862G= XP_011520727.1:p.Trp621=
XM_011522426.1:c.1616G= XP_011520728.1:p.Trp539=
XM_011522427.1:c.1055G= XP_011520729.1:p.Trp352=
XM_017023043.2:c.1616G= XP_016878532.1:p.Trp539=
XR_932805.1:n.2564G=