Canonical Allele Identifier: CA126686
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 16580
dbSNP Id: rs121913049
COSMIC: COSM967199

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947991C>T , CM000678.2:g.13947991C>T GRCh38
NC_000016.9:g.14041848C>T , CM000678.1:g.14041848C>T GRCh37
NC_000016.8:g.13949349C>T NCBI36
NG_011442.1:g.32835C>T , LRG_463:g.32835C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2533C>T ENSP00000507912.1:p.Arg845Trp
ENST00000683962.1:c.*2089C>T ENSP00000506854.1:n.*2089C>T
ENST00000311895.8:c.2395C>T MANE Select ENSP00000310520.7:p.Arg799Trp
ENST00000311895.7:c.2395C>T ENSP00000310520.7:p.Arg799Trp
ENST00000389138.7:n.1672C>T
ENST00000462862.1:n.708C>T ENSP00000461322.1:n.708C>T
NM_005236.2:c.2395C>T , LRG_463t1:c.2395C>T NP_005227.1:p.Arg799Trp
XM_011522424.1:c.2533C>T XP_011520726.1:p.Arg845Trp
XM_011522425.1:c.1852C>T XP_011520727.1:p.Arg618Trp
XM_011522426.1:c.1606C>T XP_011520728.1:p.Arg536Trp
XM_011522427.1:c.1045C>T XP_011520729.1:p.Arg349Trp
XR_932805.1:n.2554C>T
XM_011522424.3:c.2533C>T XP_011520726.1:p.Arg845Trp
XM_017023043.2:c.1606C>T XP_016878532.1:p.Arg536Trp
NM_005236.3:c.2395C>T MANE Select NP_005227.1:p.Arg799Trp