Canonical Allele Identifier: CA121479

Gene: IKBKG

Linked Data

• ClinVar Variation Id: 11457
• ClinVar RCV Id: RCV000024285 ; RCV001172474
• dbSNP Id: rs137853327
• MyVariant Identifiers: chrX:g.153792633A>T (hg19) ; chrX:g.154564418A>T (hg38)
• PubMed: PMID:11224521 ; PMID:20412081

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154564418A>T , CM000685.2:g.154564418A>T	GRCh38
NC_000023.10:g.153792633A>T , CM000685.1:g.153792633A>T	GRCh37
NC_000023.9:g.153445827A>T	NCBI36
NG_009896.1:g.27175A>T , LRG_70:g.27175A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.1181A>T	ENSP00000398579.2:p.Asp394Val
ENST00000422680.6:c.1217A>T	ENSP00000390368.3:p.Asp406Val
ENST00000440286.6:c.1217A>T	ENSP00000394934.2:p.Asp406Val
ENST00000445622.6:c.1217A>T	ENSP00000395205.2:p.Asp406Val
ENST00000615186.5:c.815A>T	ENSP00000479144.2:p.Asp272Val
ENST00000689906.1:c.1064A>T	ENSP00000508630.1:p.Asp355Val
ENST00000692948.1:c.1274A>T	ENSP00000508773.1:p.Asp425Val
ENST00000594239.6:c.1217A>T MANE Select	ENSP00000471166.1:p.Asp406Val
ENST00000594239.5:c.1217A>T	ENSP00000471166.1:p.Asp406Val
ENST00000611071.4:c.1217A>T	ENSP00000479662.1:p.Asp406Val
ENST00000611176.4:c.920A>T	ENSP00000478616.1:p.Asp307Val
ENST00000612051.1:c.*1209A>T	ENSP00000480431.1:n.*1209A>T
ENST00000615874.4:c.1193A>T	ENSP00000483381.1:p.Asp398Val
ENST00000617207.4:c.1214A>T	ENSP00000484023.1:p.Asp405Val
ENST00000618670.4:c.1421A>T	ENSP00000483825.1:p.Asp474Val
ENST00000619941.4:c.1196A>T	ENSP00000478979.1:p.Asp399Val
NM_001099856.3:c.1421A>T	NP_001093326.2:p.Asp474Val
NM_001099857.2:c.1217A>T	NP_001093327.1:p.Asp406Val
NM_001145255.2:c.920A>T	NP_001138727.1:p.Asp307Val
NM_003639.4:c.1217A>T	NP_003630.1:p.Asp406Val
XM_005274760.3:c.1418A>T	XP_005274817.1:p.Asp473Val
XM_005274761.3:c.1321+398A>T	XP_005274818.1:n.1321+398A>T
XM_005274764.3:c.1214A>T	XP_005274821.1:p.Asp405Val
XM_011531203.1:c.1268A>T	XP_011529505.1:p.Asp423Val
XM_011531204.1:c.1217A>T	XP_011529506.1:p.Asp406Val
XM_011531205.1:c.1217A>T	XP_011529507.1:p.Asp406Val
NM_001099856.4:c.1421A>T	NP_001093326.2:p.Asp474Val
NM_001321396.1:c.1217A>T	NP_001308325.1:p.Asp406Val
NM_001321397.1:c.1214A>T	NP_001308326.1:p.Asp405Val
NM_001099856.6:c.1421A>T	NP_001093326.2:p.Asp474Val
NM_001099857.4:c.1217A>T	NP_001093327.1:p.Asp406Val
NM_001145255.4:c.920A>T	NP_001138727.1:p.Asp307Val
NM_001321396.3:c.1217A>T	NP_001308325.1:p.Asp406Val
NM_001321397.3:c.1214A>T	NP_001308326.1:p.Asp405Val
NM_001377312.1:c.1217A>T	NP_001364241.1:p.Asp406Val
NM_001377313.1:c.1214A>T	NP_001364242.1:p.Asp405Val
NM_001377314.1:c.1061A>T	NP_001364243.1:p.Asp354Val
NM_001377315.1:c.848A>T	NP_001364244.1:p.Asp283Val
NR_165197.1:n.1086A>T
NM_001099857.5:c.1217A>T MANE Select	NP_001093327.1:p.Asp406Val