Canonical Allele Identifier: CA121488

Gene: IKBKG

Linked Data

• ClinVar Variation Id: 11466
• ClinVar RCV Id: RCV000012221
• dbSNP Id: rs137853330
• MyVariant Identifiers: chrX:g.153791119C>G (hg19) ; chrX:g.154562904C>G (hg38)
• PubMed: PMID:11242109 ; PMID:16379012

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154562904C>G , CM000685.2:g.154562904C>G	GRCh38
NC_000023.10:g.153791119C>G , CM000685.1:g.153791119C>G	GRCh37
NC_000023.9:g.153444313C>G	NCBI36
NG_009896.1:g.25661C>G , LRG_70:g.25661C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.827C>G	ENSP00000398579.2:p.Ala276Gly
ENST00000422680.6:c.863C>G	ENSP00000390368.3:p.Ala288Gly
ENST00000440286.6:c.863C>G	ENSP00000394934.2:p.Ala288Gly
ENST00000445622.6:c.863C>G	ENSP00000395205.2:p.Ala288Gly
ENST00000615186.5:c.461C>G	ENSP00000479144.2:p.Ala154Gly
ENST00000686774.1:c.*244C>G	ENSP00000510218.1:n.*244C>G
ENST00000687445.1:n.2260C>G
ENST00000689906.1:c.710C>G	ENSP00000508630.1:p.Ala237Gly
ENST00000692948.1:c.920C>G	ENSP00000508773.1:p.Ala307Gly
ENST00000693029.1:n.2263C>G
ENST00000594239.6:c.863C>G MANE Select	ENSP00000471166.1:p.Ala288Gly
ENST00000594239.5:c.863C>G	ENSP00000471166.1:p.Ala288Gly
ENST00000611071.4:c.863C>G	ENSP00000479662.1:p.Ala288Gly
ENST00000611176.4:c.616-655C>G	ENSP00000478616.1:n.616-655C>G
ENST00000612051.1:c.*855C>G	ENSP00000480431.1:n.*855C>G
ENST00000615874.4:c.839C>G	ENSP00000483381.1:p.Ala280Gly
ENST00000617207.4:c.860C>G	ENSP00000484023.1:p.Ala287Gly
ENST00000618670.4:c.1067C>G	ENSP00000483825.1:p.Ala356Gly
ENST00000619941.4:c.842C>G	ENSP00000478979.1:p.Ala281Gly
NM_001099856.3:c.1067C>G	NP_001093326.2:p.Ala356Gly
NM_001099857.2:c.863C>G	NP_001093327.1:p.Ala288Gly
NM_001145255.2:c.616-655C>G	NP_001138727.1:n.616-655C>G
NM_003639.4:c.863C>G	NP_003630.1:p.Ala288Gly
XM_005274760.3:c.1064C>G	XP_005274817.1:p.Ala355Gly
XM_005274761.3:c.1067C>G	XP_005274818.1:p.Ala356Gly
XM_005274764.3:c.860C>G	XP_005274821.1:p.Ala287Gly
XM_011531203.1:c.914C>G	XP_011529505.1:p.Ala305Gly
XM_011531204.1:c.863C>G	XP_011529506.1:p.Ala288Gly
XM_011531205.1:c.863C>G	XP_011529507.1:p.Ala288Gly
NM_001099856.4:c.1067C>G	NP_001093326.2:p.Ala356Gly
NM_001321396.1:c.863C>G	NP_001308325.1:p.Ala288Gly
NM_001321397.1:c.860C>G	NP_001308326.1:p.Ala287Gly
NM_001099856.6:c.1067C>G	NP_001093326.2:p.Ala356Gly
NM_001099857.4:c.863C>G	NP_001093327.1:p.Ala288Gly
NM_001145255.4:c.616-655C>G	NP_001138727.1:n.616-655C>G
NM_001321396.3:c.863C>G	NP_001308325.1:p.Ala288Gly
NM_001321397.3:c.860C>G	NP_001308326.1:p.Ala287Gly
NM_001377312.1:c.863C>G	NP_001364241.1:p.Ala288Gly
NM_001377313.1:c.860C>G	NP_001364242.1:p.Ala287Gly
NM_001377314.1:c.707C>G	NP_001364243.1:p.Ala236Gly
NM_001377315.1:c.494C>G	NP_001364244.1:p.Ala165Gly
NR_165197.1:n.732C>G
NM_001099857.5:c.863C>G MANE Select	NP_001093327.1:p.Ala288Gly