Canonical Allele Identifier: CA2209082680
Community Standard Title: NM_005236.3(ERCC4):c.2117T= (p.Ile706=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947713T= , CM000678.2:g.13947713T= GRCh38
NC_000016.9:g.14041570T= , CM000678.1:g.14041570T= GRCh37
NC_000016.8:g.13949071T= NCBI36
NG_011442.1:g.32557T= , LRG_463:g.32557T=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2117T= MANE Select NP_005227.1:p.Ile706=
ENST00000311895.8:c.2117T= MANE Select ENSP00000310520.7:p.Ile706=
NM_005236.2:c.2117T= , LRG_463t1:c.2117T= NP_005227.1:p.Ile706=
ENST00000311895.7:c.2117T= ENSP00000310520.7:p.Ile706=
ENST00000389138.7:n.1394T=
ENST00000462862.1:c.430T= ENSP00000461322.1:n.430T=
ENST00000682617.1:c.2255T= ENSP00000507912.1:p.Ile752=
ENST00000683962.1:c.*1811T= ENSP00000506854.1:n.*1811T=
XM_011522424.1:c.2255T= XP_011520726.1:p.Ile752=
XM_011522424.3:c.2255T= XP_011520726.1:p.Ile752=
XM_011522425.1:c.1574T= XP_011520727.1:p.Ile525=
XM_011522426.1:c.1328T= XP_011520728.1:p.Ile443=
XM_011522427.1:c.767T= XP_011520729.1:p.Ile256=
XM_017023043.2:c.1328T= XP_016878532.1:p.Ile443=
XR_932805.1:n.2276T=