Canonical Allele Identifier: CA2209082836
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948030T= , CM000678.2:g.13948030T= GRCh38
NC_000016.9:g.14041887T= , CM000678.1:g.14041887T= GRCh37
NC_000016.8:g.13949388T= NCBI36
NG_011442.1:g.32874T= , LRG_463:g.32874T=

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2572T= ENSP00000507912.1:p.Leu858=
ENST00000683962.1:c.*2128T= ENSP00000506854.1:n.*2128T=
ENST00000311895.8:c.2434T= MANE Select ENSP00000310520.7:p.Leu812=
ENST00000311895.7:c.2434T= ENSP00000310520.7:p.Leu812=
ENST00000389138.7:n.1711T=
NM_005236.2:c.2434T= , LRG_463t1:c.2434T= NP_005227.1:p.Leu812=
XM_011522424.1:c.2572T= XP_011520726.1:p.Leu858=
XM_011522425.1:c.1891T= XP_011520727.1:p.Leu631=
XM_011522426.1:c.1645T= XP_011520728.1:p.Leu549=
XM_011522427.1:c.1084T= XP_011520729.1:p.Leu362=
XR_932805.1:n.2593T=
XM_011522424.3:c.2572T= XP_011520726.1:p.Leu858=
XM_017023043.2:c.1645T= XP_016878532.1:p.Leu549=
NM_005236.3:c.2434T= MANE Select NP_005227.1:p.Leu812=