Canonical Allele Identifier: CA493444382
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14038631A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944774A>T , CM000678.2:g.13944774A>T GRCh38
NC_000016.9:g.14038631A>T , CM000678.1:g.14038631A>T GRCh37
NC_000016.8:g.13946132A>T NCBI36
NG_011442.1:g.29618A>T , LRG_463:g.29618A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2094A>T ENSP00000507912.1:p.Thr698=
ENST00000683962.1:c.*1650A>T ENSP00000506854.1:n.*1650A>T
ENST00000311895.8:c.1956A>T MANE Select ENSP00000310520.7:p.Thr652=
ENST00000311895.7:c.1956A>T ENSP00000310520.7:p.Thr652=
ENST00000389138.7:n.1233A>T
ENST00000462862.1:c.269A>T ENSP00000461322.1:n.269A>T
NM_005236.2:c.1956A>T , LRG_463t1:c.1956A>T NP_005227.1:p.Thr652=
XM_011522424.1:c.2094A>T XP_011520726.1:p.Thr698=
XM_011522425.1:c.1413A>T XP_011520727.1:p.Thr471=
XM_011522426.1:c.1167A>T XP_011520728.1:p.Thr389=
XM_011522427.1:c.606A>T XP_011520729.1:p.Thr202=
XR_932805.1:n.2115A>T
XM_011522424.3:c.2094A>T XP_011520726.1:p.Thr698=
XM_017023043.2:c.1167A>T XP_016878532.1:p.Thr389=
NM_005236.3:c.1956A>T MANE Select NP_005227.1:p.Thr652=