Canonical Allele Identifier: CA2209073067
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935455G= , CM000678.2:g.13935455G= GRCh38
NC_000016.9:g.14029312G= , CM000678.1:g.14029312G= GRCh37
NC_000016.8:g.13936813G= NCBI36
NG_011442.1:g.20299G= , LRG_463:g.20299G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1601G=
ENST00000682617.1:c.1661G= ENSP00000507912.1:p.Gly554=
ENST00000682826.1:c.*837G= ENSP00000507274.1:n.*837G=
ENST00000682909.1:n.3563G=
ENST00000683277.1:n.3168G=
ENST00000683407.1:n.1531G=
ENST00000683962.1:c.*1217G= ENSP00000506854.1:n.*1217G=
ENST00000311895.8:c.1523G= MANE Select ENSP00000310520.7:p.Gly508=
ENST00000311895.7:c.1523G= ENSP00000310520.7:p.Gly508=
ENST00000389138.7:n.800G=
NM_005236.2:c.1523G= , LRG_463t1:c.1523G= NP_005227.1:p.Gly508=
XM_011522424.1:c.1661G= XP_011520726.1:p.Gly554=
XM_011522425.1:c.980G= XP_011520727.1:p.Gly327=
XM_011522426.1:c.734G= XP_011520728.1:p.Gly245=
XM_011522427.1:c.173G= XP_011520729.1:p.Gly58=
XR_932805.1:n.1682G=
XM_011522424.3:c.1661G= XP_011520726.1:p.Gly554=
XM_017023043.2:c.734G= XP_016878532.1:p.Gly245=
NM_005236.3:c.1523G= MANE Select NP_005227.1:p.Gly508=