Canonical Allele Identifier: CA418438699
Gene: IL23R HGNC NCBI

Linked Data

dbSNP Id: rs1395107049
gnomAD v2: 1-67724673-T-C
gnomAD v4: 1-67258990-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67258990T>C , CM000663.2:g.67258990T>C GRCh38
NC_000001.10:g.67724673T>C , CM000663.1:g.67724673T>C GRCh37
NC_000001.9:g.67497261T>C NCBI36
NG_011498.1:g.97505T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697149.1:c.1591T>C ENSP00000513138.1:n.1591T>C
ENST00000697150.1:c.1649T>C ENSP00000513139.1:n.1649T>C
ENST00000697151.1:c.1582T>C ENSP00000513140.1:n.1582T>C
ENST00000697164.1:c.1662T>C ENSP00000513153.1:p.Ile554=
ENST00000697165.1:c.1449T>C ENSP00000513154.1:p.Ile483=
ENST00000347310.10:c.1752T>C MANE Select ENSP00000321345.5:p.Ile584=
ENST00000637002.1:c.1143T>C ENSP00000490340.1:p.Ile381=
ENST00000347310.9:c.1752T>C ENSP00000321345.5:p.Ile584=
ENST00000395227.2:c.546T>C ENSP00000378652.2:p.Ile182=
ENST00000425614.3:c.987T>C ENSP00000387640.2:p.Ile329=
ENST00000473881.2:c.*578T>C ENSP00000486667.1:n.*578T>C
NM_144701.2:c.1752T>C NP_653302.2:p.Ile584=
XM_005270516.2:c.990T>C XP_005270573.1:p.Ile330=
XM_011540789.1:c.1842T>C XP_011539091.1:p.Ile614=
XM_011540790.1:c.1752T>C XP_011539092.1:p.Ile584=
XM_011540791.1:c.1752T>C XP_011539093.1:p.Ile584=
XM_011540790.3:c.1752T>C XP_011539092.1:p.Ile584=
XM_011540791.3:c.1752T>C XP_011539093.1:p.Ile584=
XR_001736993.1:n.1832T>C
NM_144701.3:c.1752T>C MANE Select NP_653302.2:p.Ile584=