Canonical Allele Identifier: CA900066

Gene: IL23R

Linked Data

• dbSNP Id: rs373028008
• ExAC: 1:67724797 C / T
• gnomAD v2: 1-67724797-C-T
• gnomAD v3: 1-67259114-C-T
• gnomAD v4: 1-67259114-C-T
• MyVariant Identifiers: chr1:g.67724797C>T (hg19) ; chr1:g.67259114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67259114C>T , CM000663.2:g.67259114C>T	GRCh38
NC_000001.10:g.67724797C>T , CM000663.1:g.67724797C>T	GRCh37
NC_000001.9:g.67497385C>T	NCBI36
NG_011498.1:g.97629C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697149.1:c.1715C>T	ENSP00000513138.1:n.1715C>T
ENST00000697150.1:c.1773C>T	ENSP00000513139.1:n.1773C>T
ENST00000697151.1:c.1706C>T	ENSP00000513140.1:n.1706C>T
ENST00000697164.1:c.1786C>T	ENSP00000513153.1:p.Leu596Phe
ENST00000697165.1:c.1573C>T	ENSP00000513154.1:p.Leu525Phe
ENST00000347310.10:c.1876C>T MANE Select	ENSP00000321345.5:p.Leu626Phe
ENST00000637002.1:c.1267C>T	ENSP00000490340.1:p.Leu423Phe
ENST00000347310.9:c.1876C>T	ENSP00000321345.5:p.Leu626Phe
ENST00000395227.2:c.670C>T	ENSP00000378652.2:p.Leu224Phe
ENST00000425614.3:c.1111C>T	ENSP00000387640.2:p.Leu371Phe
ENST00000473881.2:c.*702C>T	ENSP00000486667.1:n.*702C>T
NM_144701.2:c.1876C>T	NP_653302.2:p.Leu626Phe
XM_005270516.2:c.1114C>T	XP_005270573.1:p.Leu372Phe
XM_011540789.1:c.1966C>T	XP_011539091.1:p.Leu656Phe
XM_011540790.1:c.1876C>T	XP_011539092.1:p.Leu626Phe
XM_011540791.1:c.1876C>T	XP_011539093.1:p.Leu626Phe
XM_011540790.3:c.1876C>T	XP_011539092.1:p.Leu626Phe
XM_011540791.3:c.1876C>T	XP_011539093.1:p.Leu626Phe
XR_001736993.1:n.1956C>T
NM_144701.3:c.1876C>T MANE Select	NP_653302.2:p.Leu626Phe