Canonical Allele Identifier: CA493444400
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs373237850

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944801A>C , CM000678.2:g.13944801A>C GRCh38
NC_000016.9:g.14038658A>C , CM000678.1:g.14038658A>C GRCh37
NC_000016.8:g.13946159A>C NCBI36
NG_011442.1:g.29645A>C , LRG_463:g.29645A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2121A>C ENSP00000507912.1:p.Ala707=
ENST00000683962.1:c.*1677A>C ENSP00000506854.1:n.*1677A>C
ENST00000311895.8:c.1983A>C MANE Select ENSP00000310520.7:p.Ala661=
ENST00000311895.7:c.1983A>C ENSP00000310520.7:p.Ala661=
ENST00000389138.7:n.1260A>C
ENST00000462862.1:c.296A>C ENSP00000461322.1:n.296A>C
NM_005236.2:c.1983A>C , LRG_463t1:c.1983A>C NP_005227.1:p.Ala661=
XM_011522424.1:c.2121A>C XP_011520726.1:p.Ala707=
XM_011522425.1:c.1440A>C XP_011520727.1:p.Ala480=
XM_011522426.1:c.1194A>C XP_011520728.1:p.Ala398=
XM_011522427.1:c.633A>C XP_011520729.1:p.Ala211=
XR_932805.1:n.2142A>C
XM_011522424.3:c.2121A>C XP_011520726.1:p.Ala707=
XM_017023043.2:c.1194A>C XP_016878532.1:p.Ala398=
NM_005236.3:c.1983A>C MANE Select NP_005227.1:p.Ala661=