Canonical Allele Identifier: CA340728663

Gene: IL23R

Linked Data

• ClinVar Variation Id: 2078087
• ClinVar RCV Id: RCV002993596
• COSMIC: COSM5914664
• MyVariant Identifiers: chr1:g.67724455C>T (hg19) ; chr1:g.67258772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67258772C>T , CM000663.2:g.67258772C>T	GRCh38
NC_000001.10:g.67724455C>T , CM000663.1:g.67724455C>T	GRCh37
NC_000001.9:g.67497043C>T	NCBI36
NG_011498.1:g.97287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1373C>T	ENSP00000513138.1:n.1373C>T
ENST00000697150.1:c.1431C>T	ENSP00000513139.1:n.1431C>T
ENST00000697151.1:c.1364C>T	ENSP00000513140.1:n.1364C>T
ENST00000697164.1:c.1444C>T	ENSP00000513153.1:p.Pro482Ser
ENST00000697165.1:c.1231C>T	ENSP00000513154.1:p.Pro411Ser
ENST00000347310.10:c.1534C>T MANE Select	ENSP00000321345.5:p.Pro512Ser
ENST00000637002.1:c.925C>T	ENSP00000490340.1:p.Pro309Ser
ENST00000347310.9:c.1534C>T	ENSP00000321345.5:p.Pro512Ser
ENST00000395227.2:c.328C>T	ENSP00000378652.2:p.Pro110Ser
ENST00000425614.3:c.769C>T	ENSP00000387640.2:p.Pro257Ser
ENST00000473881.2:c.*360C>T	ENSP00000486667.1:n.*360C>T
NM_144701.2:c.1534C>T	NP_653302.2:p.Pro512Ser
XM_005270516.2:c.772C>T	XP_005270573.1:p.Pro258Ser
XM_011540789.1:c.1624C>T	XP_011539091.1:p.Pro542Ser
XM_011540790.1:c.1534C>T	XP_011539092.1:p.Pro512Ser
XM_011540791.1:c.1534C>T	XP_011539093.1:p.Pro512Ser
XM_011540790.3:c.1534C>T	XP_011539092.1:p.Pro512Ser
XM_011540791.3:c.1534C>T	XP_011539093.1:p.Pro512Ser
XR_001736993.1:n.1614C>T
NM_144701.3:c.1534C>T MANE Select	NP_653302.2:p.Pro512Ser