Canonical Allele Identifier: CA394822626
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947827A>C , CM000678.2:g.13947827A>C GRCh38
NC_000016.9:g.14041684A>C , CM000678.1:g.14041684A>C GRCh37
NC_000016.8:g.13949185A>C NCBI36
NG_011442.1:g.32671A>C , LRG_463:g.32671A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2369A>C ENSP00000507912.1:p.Gln790Pro
ENST00000683962.1:c.*1925A>C ENSP00000506854.1:n.*1925A>C
ENST00000311895.8:c.2231A>C MANE Select ENSP00000310520.7:p.Gln744Pro
ENST00000311895.7:c.2231A>C ENSP00000310520.7:p.Gln744Pro
ENST00000389138.7:n.1508A>C
ENST00000462862.1:c.544A>C ENSP00000461322.1:n.544A>C
NM_005236.2:c.2231A>C , LRG_463t1:c.2231A>C NP_005227.1:p.Gln744Pro
XM_011522424.1:c.2369A>C XP_011520726.1:p.Gln790Pro
XM_011522425.1:c.1688A>C XP_011520727.1:p.Gln563Pro
XM_011522426.1:c.1442A>C XP_011520728.1:p.Gln481Pro
XM_011522427.1:c.881A>C XP_011520729.1:p.Gln294Pro
XR_932805.1:n.2390A>C
XM_011522424.3:c.2369A>C XP_011520726.1:p.Gln790Pro
XM_017023043.2:c.1442A>C XP_016878532.1:p.Gln481Pro
NM_005236.3:c.2231A>C MANE Select NP_005227.1:p.Gln744Pro