Canonical Allele Identifier: CA2209073317
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935596A= , CM000678.2:g.13935596A= GRCh38
NC_000016.9:g.14029453A= , CM000678.1:g.14029453A= GRCh37
NC_000016.8:g.13936954A= NCBI36
NG_011442.1:g.20440A= , LRG_463:g.20440A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1742A=
ENST00000682617.1:c.1802A= ENSP00000507912.1:p.His601=
ENST00000682826.1:c.*978A= ENSP00000507274.1:n.*978A=
ENST00000682909.1:n.3704A=
ENST00000683277.1:n.3309A=
ENST00000683407.1:n.1672A=
ENST00000683962.1:c.*1358A= ENSP00000506854.1:n.*1358A=
ENST00000311895.8:c.1664A= MANE Select ENSP00000310520.7:p.His555=
ENST00000311895.7:c.1664A= ENSP00000310520.7:p.His555=
ENST00000389138.7:n.941A=
NM_005236.2:c.1664A= , LRG_463t1:c.1664A= NP_005227.1:p.His555=
XM_011522424.1:c.1802A= XP_011520726.1:p.His601=
XM_011522425.1:c.1121A= XP_011520727.1:p.His374=
XM_011522426.1:c.875A= XP_011520728.1:p.His292=
XM_011522427.1:c.314A= XP_011520729.1:p.His105=
XR_932805.1:n.1823A=
XM_011522424.3:c.1802A= XP_011520726.1:p.His601=
XM_017023043.2:c.875A= XP_016878532.1:p.His292=
NM_005236.3:c.1664A= MANE Select NP_005227.1:p.His555=