Canonical Allele Identifier: CA394824667
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948225G>A , CM000678.2:g.13948225G>A GRCh38
NC_000016.9:g.14042082G>A , CM000678.1:g.14042082G>A GRCh37
NC_000016.8:g.13949583G>A NCBI36
NG_011442.1:g.33069G>A , LRG_463:g.33069G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2767G>A ENSP00000507912.1:p.Ala923Thr
ENST00000683962.1:c.*2323G>A ENSP00000506854.1:n.*2323G>A
ENST00000311895.8:c.2629G>A MANE Select ENSP00000310520.7:p.Ala877Thr
ENST00000311895.7:c.2629G>A ENSP00000310520.7:p.Ala877Thr
ENST00000389138.7:n.1906G>A
NM_005236.2:c.2629G>A , LRG_463t1:c.2629G>A NP_005227.1:p.Ala877Thr
XM_011522424.1:c.2767G>A XP_011520726.1:p.Ala923Thr
XM_011522425.1:c.2086G>A XP_011520727.1:p.Ala696Thr
XM_011522426.1:c.1840G>A XP_011520728.1:p.Ala614Thr
XM_011522427.1:c.1279G>A XP_011520729.1:p.Ala427Thr
XR_932805.1:n.2788G>A
XM_011522424.3:c.2767G>A XP_011520726.1:p.Ala923Thr
XM_017023043.2:c.1840G>A XP_016878532.1:p.Ala614Thr
NM_005236.3:c.2629G>A MANE Select NP_005227.1:p.Ala877Thr