Canonical Allele Identifier: CA340728791

Gene: IL23R

Linked Data

• ClinVar Variation Id: 1381505
• ClinVar RCV Id: RCV001921975
• dbSNP Id: rs2100398152
• MyVariant Identifiers: chr1:g.67724513C>T (hg19) ; chr1:g.67258830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67258830C>T , CM000663.2:g.67258830C>T	GRCh38
NC_000001.10:g.67724513C>T , CM000663.1:g.67724513C>T	GRCh37
NC_000001.9:g.67497101C>T	NCBI36
NG_011498.1:g.97345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1431C>T	ENSP00000513138.1:n.1431C>T
ENST00000697150.1:c.1489C>T	ENSP00000513139.1:n.1489C>T
ENST00000697151.1:c.1422C>T	ENSP00000513140.1:n.1422C>T
ENST00000697164.1:c.1502C>T	ENSP00000513153.1:p.Ala501Val
ENST00000697165.1:c.1289C>T	ENSP00000513154.1:p.Ala430Val
ENST00000347310.10:c.1592C>T MANE Select	ENSP00000321345.5:p.Ala531Val
ENST00000637002.1:c.983C>T	ENSP00000490340.1:p.Ala328Val
ENST00000347310.9:c.1592C>T	ENSP00000321345.5:p.Ala531Val
ENST00000395227.2:c.386C>T	ENSP00000378652.2:p.Ala129Val
ENST00000425614.3:c.827C>T	ENSP00000387640.2:p.Ala276Val
ENST00000473881.2:c.*418C>T	ENSP00000486667.1:n.*418C>T
NM_144701.2:c.1592C>T	NP_653302.2:p.Ala531Val
XM_005270516.2:c.830C>T	XP_005270573.1:p.Ala277Val
XM_011540789.1:c.1682C>T	XP_011539091.1:p.Ala561Val
XM_011540790.1:c.1592C>T	XP_011539092.1:p.Ala531Val
XM_011540791.1:c.1592C>T	XP_011539093.1:p.Ala531Val
XM_011540790.3:c.1592C>T	XP_011539092.1:p.Ala531Val
XM_011540791.3:c.1592C>T	XP_011539093.1:p.Ala531Val
XR_001736993.1:n.1672C>T
NM_144701.3:c.1592C>T MANE Select	NP_653302.2:p.Ala531Val