Canonical Allele Identifier: CA2209073161
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935509C= , CM000678.2:g.13935509C= GRCh38
NC_000016.9:g.14029366C= , CM000678.1:g.14029366C= GRCh37
NC_000016.8:g.13936867C= NCBI36
NG_011442.1:g.20353C= , LRG_463:g.20353C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1655C=
ENST00000682617.1:c.1715C= ENSP00000507912.1:p.Pro572=
ENST00000682826.1:c.*891C= ENSP00000507274.1:n.*891C=
ENST00000682909.1:n.3617C=
ENST00000683277.1:n.3222C=
ENST00000683407.1:n.1585C=
ENST00000683962.1:c.*1271C= ENSP00000506854.1:n.*1271C=
ENST00000311895.8:c.1577C= MANE Select ENSP00000310520.7:p.Pro526=
ENST00000311895.7:c.1577C= ENSP00000310520.7:p.Pro526=
ENST00000389138.7:n.854C=
NM_005236.2:c.1577C= , LRG_463t1:c.1577C= NP_005227.1:p.Pro526=
XM_011522424.1:c.1715C= XP_011520726.1:p.Pro572=
XM_011522425.1:c.1034C= XP_011520727.1:p.Pro345=
XM_011522426.1:c.788C= XP_011520728.1:p.Pro263=
XM_011522427.1:c.227C= XP_011520729.1:p.Pro76=
XR_932805.1:n.1736C=
XM_011522424.3:c.1715C= XP_011520726.1:p.Pro572=
XM_017023043.2:c.788C= XP_016878532.1:p.Pro263=
NM_005236.3:c.1577C= MANE Select NP_005227.1:p.Pro526=