Canonical Allele Identifier: CA2209082536
Community Standard Title: NM_005236.3(ERCC4):c.2018-238C=
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947376C= , CM000678.2:g.13947376C= GRCh38
NC_000016.9:g.14041233C= , CM000678.1:g.14041233C= GRCh37
NC_000016.8:g.13948734C= NCBI36
NG_011442.1:g.32220C= , LRG_463:g.32220C=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2018-238C= MANE Select NP_005227.1:n.2018-238C=
ENST00000311895.8:c.2018-238C= MANE Select ENSP00000310520.7:n.2018-238C=
NM_005236.2:c.2018-238C= , LRG_463t1:c.2018-238C= NP_005227.1:n.2018-238C=
ENST00000311895.7:c.2018-238C= ENSP00000310520.7:n.2018-238C=
ENST00000389138.7:n.1295-238C=
ENST00000462862.1:c.331-238C= ENSP00000461322.1:n.331-238C=
ENST00000682617.1:c.2156-238C= ENSP00000507912.1:n.2156-238C=
ENST00000683962.1:c.*1712-238C= ENSP00000506854.1:n.*1712-238C=
XM_011522424.1:c.2156-238C= XP_011520726.1:n.2156-238C=
XM_011522424.3:c.2156-238C= XP_011520726.1:n.2156-238C=
XM_011522425.1:c.1475-238C= XP_011520727.1:n.1475-238C=
XM_011522426.1:c.1229-238C= XP_011520728.1:n.1229-238C=
XM_011522427.1:c.668-238C= XP_011520729.1:n.668-238C=
XM_017023043.2:c.1229-238C= XP_016878532.1:n.1229-238C=
XR_932805.1:n.2177-238C=