Canonical Allele Identifier: CA394812564
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2032274932

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935673T>C , CM000678.2:g.13935673T>C GRCh38
NC_000016.9:g.14029530T>C , CM000678.1:g.14029530T>C GRCh37
NC_000016.8:g.13937031T>C NCBI36
NG_011442.1:g.20517T>C , LRG_463:g.20517T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682568.1:n.1819T>C
ENST00000682617.1:c.1879T>C ENSP00000507912.1:p.Tyr627His
ENST00000682826.1:c.*1055T>C ENSP00000507274.1:n.*1055T>C
ENST00000682909.1:n.3781T>C
ENST00000683277.1:n.3386T>C
ENST00000683407.1:n.1749T>C
ENST00000683962.1:c.*1435T>C ENSP00000506854.1:n.*1435T>C
ENST00000311895.8:c.1741T>C MANE Select ENSP00000310520.7:p.Tyr581His
ENST00000311895.7:c.1741T>C ENSP00000310520.7:p.Tyr581His
ENST00000389138.7:n.1018T>C
NM_005236.2:c.1741T>C , LRG_463t1:c.1741T>C NP_005227.1:p.Tyr581His
XM_011522424.1:c.1879T>C XP_011520726.1:p.Tyr627His
XM_011522425.1:c.1198T>C XP_011520727.1:p.Tyr400His
XM_011522426.1:c.952T>C XP_011520728.1:p.Tyr318His
XM_011522427.1:c.391T>C XP_011520729.1:p.Tyr131His
XR_932805.1:n.1900T>C
XM_011522424.3:c.1879T>C XP_011520726.1:p.Tyr627His
XM_017023043.2:c.952T>C XP_016878532.1:p.Tyr318His
NM_005236.3:c.1741T>C MANE Select NP_005227.1:p.Tyr581His