Canonical Allele Identifier: CA7910532
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs750549531

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935698G>A , CM000678.2:g.13935698G>A GRCh38
NC_000016.9:g.14029555G>A , CM000678.1:g.14029555G>A GRCh37
NC_000016.8:g.13937056G>A NCBI36
NG_011442.1:g.20542G>A , LRG_463:g.20542G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1844G>A
ENST00000682617.1:c.1904G>A ENSP00000507912.1:p.Arg635Gln
ENST00000682826.1:c.*1080G>A ENSP00000507274.1:n.*1080G>A
ENST00000682909.1:n.3806G>A
ENST00000683277.1:n.3411G>A
ENST00000683407.1:n.1774G>A
ENST00000683962.1:c.*1460G>A ENSP00000506854.1:n.*1460G>A
ENST00000311895.8:c.1766G>A MANE Select ENSP00000310520.7:p.Arg589Gln
ENST00000311895.7:c.1766G>A ENSP00000310520.7:p.Arg589Gln
ENST00000389138.7:n.1043G>A
NM_005236.2:c.1766G>A , LRG_463t1:c.1766G>A NP_005227.1:p.Arg589Gln
XM_011522424.1:c.1904G>A XP_011520726.1:p.Arg635Gln
XM_011522425.1:c.1223G>A XP_011520727.1:p.Arg408Gln
XM_011522426.1:c.977G>A XP_011520728.1:p.Arg326Gln
XM_011522427.1:c.416G>A XP_011520729.1:p.Arg139Gln
XR_932805.1:n.1925G>A
XM_011522424.3:c.1904G>A XP_011520726.1:p.Arg635Gln
XM_017023043.2:c.977G>A XP_016878532.1:p.Arg326Gln
NM_005236.3:c.1766G>A MANE Select NP_005227.1:p.Arg589Gln