Canonical Allele Identifier: CA7910688
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs779096061

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947752C>T , CM000678.2:g.13947752C>T GRCh38
NC_000016.9:g.14041609C>T , CM000678.1:g.14041609C>T GRCh37
NC_000016.8:g.13949110C>T NCBI36
NG_011442.1:g.32596C>T , LRG_463:g.32596C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2294C>T ENSP00000507912.1:p.Thr765Ile
ENST00000683962.1:c.*1850C>T ENSP00000506854.1:n.*1850C>T
ENST00000311895.8:c.2156C>T MANE Select ENSP00000310520.7:p.Thr719Ile
ENST00000311895.7:c.2156C>T ENSP00000310520.7:p.Thr719Ile
ENST00000389138.7:n.1433C>T
ENST00000462862.1:c.469C>T ENSP00000461322.1:n.469C>T
NM_005236.2:c.2156C>T , LRG_463t1:c.2156C>T NP_005227.1:p.Thr719Ile
XM_011522424.1:c.2294C>T XP_011520726.1:p.Thr765Ile
XM_011522425.1:c.1613C>T XP_011520727.1:p.Thr538Ile
XM_011522426.1:c.1367C>T XP_011520728.1:p.Thr456Ile
XM_011522427.1:c.806C>T XP_011520729.1:p.Thr269Ile
XR_932805.1:n.2315C>T
XM_011522424.3:c.2294C>T XP_011520726.1:p.Thr765Ile
XM_017023043.2:c.1367C>T XP_016878532.1:p.Thr456Ile
NM_005236.3:c.2156C>T MANE Select NP_005227.1:p.Thr719Ile