Canonical Allele Identifier: CA158879
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 134139
dbSNP Id: rs587778284

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948186C>T , CM000678.2:g.13948186C>T GRCh38
NC_000016.9:g.14042043C>T , CM000678.1:g.14042043C>T GRCh37
NC_000016.8:g.13949544C>T NCBI36
NG_011442.1:g.33030C>T , LRG_463:g.33030C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2728C>T ENSP00000507912.1:p.Arg910Cys
ENST00000683962.1:c.*2284C>T ENSP00000506854.1:n.*2284C>T
ENST00000311895.8:c.2590C>T MANE Select ENSP00000310520.7:p.Arg864Cys
ENST00000311895.7:c.2590C>T ENSP00000310520.7:p.Arg864Cys
ENST00000389138.7:n.1867C>T
NM_005236.2:c.2590C>T , LRG_463t1:c.2590C>T NP_005227.1:p.Arg864Cys
XM_011522424.1:c.2728C>T XP_011520726.1:p.Arg910Cys
XM_011522425.1:c.2047C>T XP_011520727.1:p.Arg683Cys
XM_011522426.1:c.1801C>T XP_011520728.1:p.Arg601Cys
XM_011522427.1:c.1240C>T XP_011520729.1:p.Arg414Cys
XR_932805.1:n.2749C>T
XM_011522424.3:c.2728C>T XP_011520726.1:p.Arg910Cys
XM_017023043.2:c.1801C>T XP_016878532.1:p.Arg601Cys
NM_005236.3:c.2590C>T MANE Select NP_005227.1:p.Arg864Cys