Canonical Allele Identifier: CA493689601
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041505A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947648A>T , CM000678.2:g.13947648A>T GRCh38
NC_000016.9:g.14041505A>T , CM000678.1:g.14041505A>T GRCh37
NC_000016.8:g.13949006A>T NCBI36
NG_011442.1:g.32492A>T , LRG_463:g.32492A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2190A>T ENSP00000507912.1:p.Ile730=
ENST00000683962.1:c.*1746A>T ENSP00000506854.1:n.*1746A>T
ENST00000311895.8:c.2052A>T MANE Select ENSP00000310520.7:p.Ile684=
ENST00000311895.7:c.2052A>T ENSP00000310520.7:p.Ile684=
ENST00000389138.7:n.1329A>T
ENST00000462862.1:c.365A>T ENSP00000461322.1:n.365A>T
NM_005236.2:c.2052A>T , LRG_463t1:c.2052A>T NP_005227.1:p.Ile684=
XM_011522424.1:c.2190A>T XP_011520726.1:p.Ile730=
XM_011522425.1:c.1509A>T XP_011520727.1:p.Ile503=
XM_011522426.1:c.1263A>T XP_011520728.1:p.Ile421=
XM_011522427.1:c.702A>T XP_011520729.1:p.Ile234=
XR_932805.1:n.2211A>T
XM_011522424.3:c.2190A>T XP_011520726.1:p.Ile730=
XM_017023043.2:c.1263A>T XP_016878532.1:p.Ile421=
NM_005236.3:c.2052A>T MANE Select NP_005227.1:p.Ile684=