Canonical Allele Identifier: CA394824300
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2663A>C ENSP00000507912.1:p.Glu888Ala
ENST00000683962.1:c.*2219A>C ENSP00000506854.1:n.*2219A>C
ENST00000311895.8:c.2525A>C MANE Select ENSP00000310520.7:p.Glu842Ala
ENST00000311895.7:c.2525A>C ENSP00000310520.7:p.Glu842Ala
ENST00000389138.7:n.1802A>C
NM_005236.2:c.2525A>C , LRG_463t1:c.2525A>C NP_005227.1:p.Glu842Ala
XM_011522424.1:c.2663A>C XP_011520726.1:p.Glu888Ala
XM_011522425.1:c.1982A>C XP_011520727.1:p.Glu661Ala
XM_011522426.1:c.1736A>C XP_011520728.1:p.Glu579Ala
XM_011522427.1:c.1175A>C XP_011520729.1:p.Glu392Ala
XR_932805.1:n.2684A>C
XM_011522424.3:c.2663A>C XP_011520726.1:p.Glu888Ala
XM_017023043.2:c.1736A>C XP_016878532.1:p.Glu579Ala
NM_005236.3:c.2525A>C MANE Select NP_005227.1:p.Glu842Ala