Canonical Allele Identifier: CA2209082917
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948206T= , CM000678.2:g.13948206T= GRCh38
NC_000016.9:g.14042063T= , CM000678.1:g.14042063T= GRCh37
NC_000016.8:g.13949564T= NCBI36
NG_011442.1:g.33050T= , LRG_463:g.33050T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2748T= ENSP00000507912.1:p.Val916=
ENST00000683962.1:c.*2304T= ENSP00000506854.1:n.*2304T=
ENST00000311895.8:c.2610T= MANE Select ENSP00000310520.7:p.Val870=
ENST00000311895.7:c.2610T= ENSP00000310520.7:p.Val870=
ENST00000389138.7:n.1887T=
NM_005236.2:c.2610T= , LRG_463t1:c.2610T= NP_005227.1:p.Val870=
XM_011522424.1:c.2748T= XP_011520726.1:p.Val916=
XM_011522425.1:c.2067T= XP_011520727.1:p.Val689=
XM_011522426.1:c.1821T= XP_011520728.1:p.Val607=
XM_011522427.1:c.1260T= XP_011520729.1:p.Val420=
XR_932805.1:n.2769T=
XM_011522424.3:c.2748T= XP_011520726.1:p.Val916=
XM_017023043.2:c.1821T= XP_016878532.1:p.Val607=
NM_005236.3:c.2610T= MANE Select NP_005227.1:p.Val870=