Canonical Allele Identifier: CA394824689
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948231C>A , CM000678.2:g.13948231C>A GRCh38
NC_000016.9:g.14042088C>A , CM000678.1:g.14042088C>A GRCh37
NC_000016.8:g.13949589C>A NCBI36
NG_011442.1:g.33075C>A , LRG_463:g.33075C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2773C>A ENSP00000507912.1:p.Leu925Met
ENST00000683962.1:c.*2329C>A ENSP00000506854.1:n.*2329C>A
ENST00000311895.8:c.2635C>A MANE Select ENSP00000310520.7:p.Leu879Met
ENST00000311895.7:c.2635C>A ENSP00000310520.7:p.Leu879Met
ENST00000389138.7:n.1912C>A
NM_005236.2:c.2635C>A , LRG_463t1:c.2635C>A NP_005227.1:p.Leu879Met
XM_011522424.1:c.2773C>A XP_011520726.1:p.Leu925Met
XM_011522425.1:c.2092C>A XP_011520727.1:p.Leu698Met
XM_011522426.1:c.1846C>A XP_011520728.1:p.Leu616Met
XM_011522427.1:c.1285C>A XP_011520729.1:p.Leu429Met
XR_932805.1:n.2794C>A
XM_011522424.3:c.2773C>A XP_011520726.1:p.Leu925Met
XM_017023043.2:c.1846C>A XP_016878532.1:p.Leu616Met
NM_005236.3:c.2635C>A MANE Select NP_005227.1:p.Leu879Met