Canonical Allele Identifier: CA394824302
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948121A>T , CM000678.2:g.13948121A>T GRCh38
NC_000016.9:g.14041978A>T , CM000678.1:g.14041978A>T GRCh37
NC_000016.8:g.13949479A>T NCBI36
NG_011442.1:g.32965A>T , LRG_463:g.32965A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2663A>T ENSP00000507912.1:p.Glu888Val
ENST00000683962.1:c.*2219A>T ENSP00000506854.1:n.*2219A>T
ENST00000311895.8:c.2525A>T MANE Select ENSP00000310520.7:p.Glu842Val
ENST00000311895.7:c.2525A>T ENSP00000310520.7:p.Glu842Val
ENST00000389138.7:n.1802A>T
NM_005236.2:c.2525A>T , LRG_463t1:c.2525A>T NP_005227.1:p.Glu842Val
XM_011522424.1:c.2663A>T XP_011520726.1:p.Glu888Val
XM_011522425.1:c.1982A>T XP_011520727.1:p.Glu661Val
XM_011522426.1:c.1736A>T XP_011520728.1:p.Glu579Val
XM_011522427.1:c.1175A>T XP_011520729.1:p.Glu392Val
XR_932805.1:n.2684A>T
XM_011522424.3:c.2663A>T XP_011520726.1:p.Glu888Val
XM_017023043.2:c.1736A>T XP_016878532.1:p.Glu579Val
NM_005236.3:c.2525A>T MANE Select NP_005227.1:p.Glu842Val