Canonical Allele Identifier: CA394818121
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944814T>A , CM000678.2:g.13944814T>A GRCh38
NC_000016.9:g.14038671T>A , CM000678.1:g.14038671T>A GRCh37
NC_000016.8:g.13946172T>A NCBI36
NG_011442.1:g.29658T>A , LRG_463:g.29658T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2134T>A ENSP00000507912.1:p.Ser712Thr
ENST00000683962.1:c.*1690T>A ENSP00000506854.1:n.*1690T>A
ENST00000311895.8:c.1996T>A MANE Select ENSP00000310520.7:p.Ser666Thr
ENST00000311895.7:c.1996T>A ENSP00000310520.7:p.Ser666Thr
ENST00000389138.7:n.1273T>A
ENST00000462862.1:c.309T>A ENSP00000461322.1:n.309T>A
NM_005236.2:c.1996T>A , LRG_463t1:c.1996T>A NP_005227.1:p.Ser666Thr
XM_011522424.1:c.2134T>A XP_011520726.1:p.Ser712Thr
XM_011522425.1:c.1453T>A XP_011520727.1:p.Ser485Thr
XM_011522426.1:c.1207T>A XP_011520728.1:p.Ser403Thr
XM_011522427.1:c.646T>A XP_011520729.1:p.Ser216Thr
XR_932805.1:n.2155T>A
XM_011522424.3:c.2134T>A XP_011520726.1:p.Ser712Thr
XM_017023043.2:c.1207T>A XP_016878532.1:p.Ser403Thr
NM_005236.3:c.1996T>A MANE Select NP_005227.1:p.Ser666Thr