Canonical Allele Identifier: CA2209073284
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935576A= , CM000678.2:g.13935576A= GRCh38
NC_000016.9:g.14029433A= , CM000678.1:g.14029433A= GRCh37
NC_000016.8:g.13936934A= NCBI36
NG_011442.1:g.20420A= , LRG_463:g.20420A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1722A=
ENST00000682617.1:c.1782A= ENSP00000507912.1:p.Lys594=
ENST00000682826.1:c.*958A= ENSP00000507274.1:n.*958A=
ENST00000682909.1:n.3684A=
ENST00000683277.1:n.3289A=
ENST00000683407.1:n.1652A=
ENST00000683962.1:c.*1338A= ENSP00000506854.1:n.*1338A=
ENST00000311895.8:c.1644A= MANE Select ENSP00000310520.7:p.Lys548=
ENST00000311895.7:c.1644A= ENSP00000310520.7:p.Lys548=
ENST00000389138.7:n.921A=
NM_005236.2:c.1644A= , LRG_463t1:c.1644A= NP_005227.1:p.Lys548=
XM_011522424.1:c.1782A= XP_011520726.1:p.Lys594=
XM_011522425.1:c.1101A= XP_011520727.1:p.Lys367=
XM_011522426.1:c.855A= XP_011520728.1:p.Lys285=
XM_011522427.1:c.294A= XP_011520729.1:p.Lys98=
XR_932805.1:n.1803A=
XM_011522424.3:c.1782A= XP_011520726.1:p.Lys594=
XM_017023043.2:c.855A= XP_016878532.1:p.Lys285=
NM_005236.3:c.1644A= MANE Select NP_005227.1:p.Lys548=