Canonical Allele Identifier: CA2209082641
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947639G= , CM000678.2:g.13947639G= GRCh38
NC_000016.9:g.14041496G= , CM000678.1:g.14041496G= GRCh37
NC_000016.8:g.13948997G= NCBI36
NG_011442.1:g.32483G= , LRG_463:g.32483G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2181G= ENSP00000507912.1:p.Gln727=
ENST00000683962.1:c.*1737G= ENSP00000506854.1:n.*1737G=
ENST00000311895.8:c.2043G= MANE Select ENSP00000310520.7:p.Gln681=
ENST00000311895.7:c.2043G= ENSP00000310520.7:p.Gln681=
ENST00000389138.7:n.1320G=
ENST00000462862.1:c.356G= ENSP00000461322.1:n.356G=
NM_005236.2:c.2043G= , LRG_463t1:c.2043G= NP_005227.1:p.Gln681=
XM_011522424.1:c.2181G= XP_011520726.1:p.Gln727=
XM_011522425.1:c.1500G= XP_011520727.1:p.Gln500=
XM_011522426.1:c.1254G= XP_011520728.1:p.Gln418=
XM_011522427.1:c.693G= XP_011520729.1:p.Gln231=
XR_932805.1:n.2202G=
XM_011522424.3:c.2181G= XP_011520726.1:p.Gln727=
XM_017023043.2:c.1254G= XP_016878532.1:p.Gln418=
NM_005236.3:c.2043G= MANE Select NP_005227.1:p.Gln681=