Canonical Allele Identifier: CA3222146857
Community Standard Title: NM_005236.3(ERCC4):c.2242A= (p.Met748=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947838A= , CM000678.2:g.13947838A= GRCh38
NC_000016.9:g.14041695A= , CM000678.1:g.14041695A= GRCh37
NC_000016.8:g.13949196A= NCBI36
NG_011442.1:g.32682A= , LRG_463:g.32682A=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2242A= MANE Select NP_005227.1:p.Met748=
ENST00000311895.8:c.2242A= MANE Select ENSP00000310520.7:p.Met748=
NM_005236.2:c.2242A= , LRG_463t1:c.2242A= NP_005227.1:p.Met748=
ENST00000311895.7:c.2242A= ENSP00000310520.7:p.Met748=
ENST00000389138.7:n.1519A=
ENST00000462862.1:c.555A= ENSP00000461322.1:n.555A=
ENST00000682617.1:c.2380A= ENSP00000507912.1:p.Met794=
ENST00000683962.1:c.*1936A= ENSP00000506854.1:n.*1936A=
XM_011522424.1:c.2380A= XP_011520726.1:p.Met794=
XM_011522424.3:c.2380A= XP_011520726.1:p.Met794=
XM_011522425.1:c.1699A= XP_011520727.1:p.Met567=
XM_011522426.1:c.1453A= XP_011520728.1:p.Met485=
XM_011522427.1:c.892A= XP_011520729.1:p.Met298=
XM_017023043.2:c.1453A= XP_016878532.1:p.Met485=
XR_932805.1:n.2401A=