Canonical Allele Identifier: CA2209065752
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13928108T= , CM000678.2:g.13928108T= GRCh38
NC_000016.9:g.14021965T= , CM000678.1:g.14021965T= GRCh37
NC_000016.8:g.13929466T= NCBI36
NG_011442.1:g.12952T= , LRG_463:g.12952T=

Transcript Alleles

HGVS Amino-acid change
ENST00000682552.1:n.653T=
ENST00000682568.1:n.595T=
ENST00000682617.1:c.803T= ENSP00000507912.1:p.Met268=
ENST00000682826.1:c.665T= ENSP00000507274.1:p.Met222=
ENST00000682909.1:n.2705T=
ENST00000683277.1:n.2310T=
ENST00000683407.1:n.673T=
ENST00000683962.1:c.*359T= ENSP00000506854.1:n.*359T=
ENST00000311895.8:c.665T= MANE Select ENSP00000310520.7:p.Met222=
ENST00000311895.7:c.665T= ENSP00000310520.7:p.Met222=
ENST00000574194.1:c.206-14T=
ENST00000574781.1:n.342T=
ENST00000575156.5:c.665T= ENSP00000459933.1:p.Met222=
NM_005236.2:c.665T= , LRG_463t1:c.665T= NP_005227.1:p.Met222=
XM_011522424.1:c.803T= XP_011520726.1:p.Met268=
XM_011522425.1:c.122T= XP_011520727.1:p.Met41=
XR_932805.1:n.824T=
XM_011522424.3:c.803T= XP_011520726.1:p.Met268=
XM_017023043.2:c.-273T= XP_016878532.1:n.-273T=
NM_005236.3:c.665T= MANE Select NP_005227.1:p.Met222=