Canonical Allele Identifier: CA493689672
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041610T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947753T>A , CM000678.2:g.13947753T>A GRCh38
NC_000016.9:g.14041610T>A , CM000678.1:g.14041610T>A GRCh37
NC_000016.8:g.13949111T>A NCBI36
NG_011442.1:g.32597T>A , LRG_463:g.32597T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2295T>A ENSP00000507912.1:p.Thr765=
ENST00000683962.1:c.*1851T>A ENSP00000506854.1:n.*1851T>A
ENST00000311895.8:c.2157T>A MANE Select ENSP00000310520.7:p.Thr719=
ENST00000311895.7:c.2157T>A ENSP00000310520.7:p.Thr719=
ENST00000389138.7:n.1434T>A
ENST00000462862.1:c.470T>A ENSP00000461322.1:n.470T>A
NM_005236.2:c.2157T>A , LRG_463t1:c.2157T>A NP_005227.1:p.Thr719=
XM_011522424.1:c.2295T>A XP_011520726.1:p.Thr765=
XM_011522425.1:c.1614T>A XP_011520727.1:p.Thr538=
XM_011522426.1:c.1368T>A XP_011520728.1:p.Thr456=
XM_011522427.1:c.807T>A XP_011520729.1:p.Thr269=
XR_932805.1:n.2316T>A
XM_011522424.3:c.2295T>A XP_011520726.1:p.Thr765=
XM_017023043.2:c.1368T>A XP_016878532.1:p.Thr456=
NM_005236.3:c.2157T>A MANE Select NP_005227.1:p.Thr719=