Canonical Allele Identifier: CA340729487

Gene: IL23R

Linked Data

• ClinVar Variation Id: 1475449
• ClinVar RCV Id: RCV001976249
• dbSNP Id: rs1653100399
• gnomAD v4: 1-67258985-A-C
• MyVariant Identifiers: chr1:g.67724668A>C (hg19) ; chr1:g.67258985A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67258985A>C , CM000663.2:g.67258985A>C	GRCh38
NC_000001.10:g.67724668A>C , CM000663.1:g.67724668A>C	GRCh37
NC_000001.9:g.67497256A>C	NCBI36
NG_011498.1:g.97500A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1586A>C	ENSP00000513138.1:n.1586A>C
ENST00000697150.1:c.1644A>C	ENSP00000513139.1:n.1644A>C
ENST00000697151.1:c.1577A>C	ENSP00000513140.1:n.1577A>C
ENST00000697164.1:c.1657A>C	ENSP00000513153.1:p.Thr553Pro
ENST00000697165.1:c.1444A>C	ENSP00000513154.1:p.Thr482Pro
ENST00000347310.10:c.1747A>C MANE Select	ENSP00000321345.5:p.Thr583Pro
ENST00000637002.1:c.1138A>C	ENSP00000490340.1:p.Thr380Pro
ENST00000347310.9:c.1747A>C	ENSP00000321345.5:p.Thr583Pro
ENST00000395227.2:c.541A>C	ENSP00000378652.2:p.Thr181Pro
ENST00000425614.3:c.982A>C	ENSP00000387640.2:p.Thr328Pro
ENST00000473881.2:c.*573A>C	ENSP00000486667.1:n.*573A>C
NM_144701.2:c.1747A>C	NP_653302.2:p.Thr583Pro
XM_005270516.2:c.985A>C	XP_005270573.1:p.Thr329Pro
XM_011540789.1:c.1837A>C	XP_011539091.1:p.Thr613Pro
XM_011540790.1:c.1747A>C	XP_011539092.1:p.Thr583Pro
XM_011540791.1:c.1747A>C	XP_011539093.1:p.Thr583Pro
XM_011540790.3:c.1747A>C	XP_011539092.1:p.Thr583Pro
XM_011540791.3:c.1747A>C	XP_011539093.1:p.Thr583Pro
XR_001736993.1:n.1827A>C
NM_144701.3:c.1747A>C MANE Select	NP_653302.2:p.Thr583Pro