Canonical Allele Identifier: CA900027

Gene: IL23R

Linked Data

• ClinVar Variation Id: 1914022
• ClinVar RCV Id: RCV002608483
• dbSNP Id: rs770768496
• ExAC: 1:67724433 T / C
• gnomAD v2: 1-67724433-T-C
• gnomAD v3: 1-67258750-T-C
• gnomAD v4: 1-67258750-T-C
• MyVariant Identifiers: chr1:g.67724433T>C (hg19) ; chr1:g.67258750T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67258750T>C , CM000663.2:g.67258750T>C	GRCh38
NC_000001.10:g.67724433T>C , CM000663.1:g.67724433T>C	GRCh37
NC_000001.9:g.67497021T>C	NCBI36
NG_011498.1:g.97265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1351T>C	ENSP00000513138.1:n.1351T>C
ENST00000697150.1:c.1409T>C	ENSP00000513139.1:n.1409T>C
ENST00000697151.1:c.1342T>C	ENSP00000513140.1:n.1342T>C
ENST00000697164.1:c.1422T>C	ENSP00000513153.1:p.Ile474=
ENST00000697165.1:c.1209T>C	ENSP00000513154.1:p.Ile403=
ENST00000347310.10:c.1512T>C MANE Select	ENSP00000321345.5:p.Ile504=
ENST00000637002.1:c.903T>C	ENSP00000490340.1:p.Ile301=
ENST00000347310.9:c.1512T>C	ENSP00000321345.5:p.Ile504=
ENST00000395227.2:c.306T>C	ENSP00000378652.2:p.Ile102=
ENST00000425614.3:c.747T>C	ENSP00000387640.2:p.Ile249=
ENST00000473881.2:c.*338T>C	ENSP00000486667.1:n.*338T>C
NM_144701.2:c.1512T>C	NP_653302.2:p.Ile504=
XM_005270516.2:c.750T>C	XP_005270573.1:p.Ile250=
XM_011540789.1:c.1602T>C	XP_011539091.1:p.Ile534=
XM_011540790.1:c.1512T>C	XP_011539092.1:p.Ile504=
XM_011540791.1:c.1512T>C	XP_011539093.1:p.Ile504=
XM_011540790.3:c.1512T>C	XP_011539092.1:p.Ile504=
XM_011540791.3:c.1512T>C	XP_011539093.1:p.Ile504=
XR_001736993.1:n.1592T>C
NM_144701.3:c.1512T>C MANE Select	NP_653302.2:p.Ile504=