Canonical Allele Identifier: CA2209081452
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944830A= , CM000678.2:g.13944830A= GRCh38
NC_000016.9:g.14038687A= , CM000678.1:g.14038687A= GRCh37
NC_000016.8:g.13946188A= NCBI36
NG_011442.1:g.29674A= , LRG_463:g.29674A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2150A= ENSP00000507912.1:p.Lys717=
ENST00000683962.1:c.*1706A= ENSP00000506854.1:n.*1706A=
ENST00000311895.8:c.2012A= MANE Select ENSP00000310520.7:p.Lys671=
ENST00000311895.7:c.2012A= ENSP00000310520.7:p.Lys671=
ENST00000389138.7:n.1289A=
ENST00000462862.1:c.325A= ENSP00000461322.1:n.325A=
NM_005236.2:c.2012A= , LRG_463t1:c.2012A= NP_005227.1:p.Lys671=
XM_011522424.1:c.2150A= XP_011520726.1:p.Lys717=
XM_011522425.1:c.1469A= XP_011520727.1:p.Lys490=
XM_011522426.1:c.1223A= XP_011520728.1:p.Lys408=
XM_011522427.1:c.662A= XP_011520729.1:p.Lys221=
XR_932805.1:n.2171A=
XM_011522424.3:c.2150A= XP_011520726.1:p.Lys717=
XM_017023043.2:c.1223A= XP_016878532.1:p.Lys408=
NM_005236.3:c.2012A= MANE Select NP_005227.1:p.Lys671=