Canonical Allele Identifier: CA3222146609
Community Standard Title: NM_005236.3(ERCC4):c.2110A= (p.Ile704=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947706A= , CM000678.2:g.13947706A= GRCh38
NC_000016.9:g.14041563A= , CM000678.1:g.14041563A= GRCh37
NC_000016.8:g.13949064A= NCBI36
NG_011442.1:g.32550A= , LRG_463:g.32550A=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2110A= MANE Select NP_005227.1:p.Ile704=
ENST00000311895.8:c.2110A= MANE Select ENSP00000310520.7:p.Ile704=
NM_005236.2:c.2110A= , LRG_463t1:c.2110A= NP_005227.1:p.Ile704=
ENST00000311895.7:c.2110A= ENSP00000310520.7:p.Ile704=
ENST00000389138.7:n.1387A=
ENST00000462862.1:c.423A= ENSP00000461322.1:n.423A=
ENST00000682617.1:c.2248A= ENSP00000507912.1:p.Ile750=
ENST00000683962.1:c.*1804A= ENSP00000506854.1:n.*1804A=
XM_011522424.1:c.2248A= XP_011520726.1:p.Ile750=
XM_011522424.3:c.2248A= XP_011520726.1:p.Ile750=
XM_011522425.1:c.1567A= XP_011520727.1:p.Ile523=
XM_011522426.1:c.1321A= XP_011520728.1:p.Ile441=
XM_011522427.1:c.760A= XP_011520729.1:p.Ile254=
XM_017023043.2:c.1321A= XP_016878532.1:p.Ile441=
XR_932805.1:n.2269A=