Canonical Allele Identifier: CA2209082859
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948089T= , CM000678.2:g.13948089T= GRCh38
NC_000016.9:g.14041946T= , CM000678.1:g.14041946T= GRCh37
NC_000016.8:g.13949447T= NCBI36
NG_011442.1:g.32933T= , LRG_463:g.32933T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2631T= ENSP00000507912.1:p.Ile877=
ENST00000683962.1:c.*2187T= ENSP00000506854.1:n.*2187T=
ENST00000311895.8:c.2493T= MANE Select ENSP00000310520.7:p.Ile831=
ENST00000311895.7:c.2493T= ENSP00000310520.7:p.Ile831=
ENST00000389138.7:n.1770T=
NM_005236.2:c.2493T= , LRG_463t1:c.2493T= NP_005227.1:p.Ile831=
XM_011522424.1:c.2631T= XP_011520726.1:p.Ile877=
XM_011522425.1:c.1950T= XP_011520727.1:p.Ile650=
XM_011522426.1:c.1704T= XP_011520728.1:p.Ile568=
XM_011522427.1:c.1143T= XP_011520729.1:p.Ile381=
XR_932805.1:n.2652T=
XM_011522424.3:c.2631T= XP_011520726.1:p.Ile877=
XM_017023043.2:c.1704T= XP_016878532.1:p.Ile568=
NM_005236.3:c.2493T= MANE Select NP_005227.1:p.Ile831=