Canonical Allele Identifier: CA121470
Gene: IKBKG HGNC NCBI

Linked Data

ClinVar Variation Id: 11453
ClinVar RCV Id: RCV000012206 RCV000760425
dbSNP Id: rs137853324
MyVariant Identifiers: chrX:g.153792587G>T (hg19) chrX:g.154564372G>T (hg38)
PubMed: PMID:11047757
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564372G>T , CM000685.2:g.154564372G>T GRCh38
NC_000023.10:g.153792587G>T , CM000685.1:g.153792587G>T GRCh37
NC_000023.9:g.153445781G>T NCBI36
NG_009896.1:g.27129G>T , LRG_70:g.27129G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000413620.6:c.1135G>T ENSP00000398579.2:p.Glu379Ter
ENST00000422680.6:c.1171G>T ENSP00000390368.3:p.Glu391Ter
ENST00000440286.6:c.1171G>T ENSP00000394934.2:p.Glu391Ter
ENST00000445622.6:c.1171G>T ENSP00000395205.2:p.Glu391Ter
ENST00000615186.5:c.769G>T ENSP00000479144.2:p.Glu257Ter
ENST00000689906.1:c.1018G>T ENSP00000508630.1:p.Glu340Ter
ENST00000692948.1:c.1228G>T ENSP00000508773.1:p.Glu410Ter
ENST00000594239.6:c.1171G>T MANE Select ENSP00000471166.1:p.Glu391Ter
ENST00000594239.5:c.1171G>T ENSP00000471166.1:p.Glu391Ter
ENST00000611071.4:c.1171G>T ENSP00000479662.1:p.Glu391Ter
ENST00000611176.4:c.874G>T ENSP00000478616.1:p.Glu292Ter
ENST00000612051.1:c.*1163G>T ENSP00000480431.1:n.*1163G>T
ENST00000615874.4:c.1147G>T ENSP00000483381.1:p.Glu383Ter
ENST00000617207.4:c.1168G>T ENSP00000484023.1:p.Glu390Ter
ENST00000618670.4:c.1375G>T ENSP00000483825.1:p.Glu459Ter
ENST00000619941.4:c.1150G>T ENSP00000478979.1:p.Glu384Ter
NM_001099856.3:c.1375G>T NP_001093326.2:p.Glu459Ter
NM_001099857.2:c.1171G>T NP_001093327.1:p.Glu391Ter
NM_001145255.2:c.874G>T NP_001138727.1:p.Glu292Ter
NM_003639.4:c.1171G>T NP_003630.1:p.Glu391Ter
XM_005274760.3:c.1372G>T XP_005274817.1:p.Glu458Ter
XM_005274761.3:c.1321+352G>T XP_005274818.1:n.1321+352G>T
XM_005274764.3:c.1168G>T XP_005274821.1:p.Glu390Ter
XM_011531203.1:c.1222G>T XP_011529505.1:p.Glu408Ter
XM_011531204.1:c.1171G>T XP_011529506.1:p.Glu391Ter
XM_011531205.1:c.1171G>T XP_011529507.1:p.Glu391Ter
NM_001099856.4:c.1375G>T NP_001093326.2:p.Glu459Ter
NM_001321396.1:c.1171G>T NP_001308325.1:p.Glu391Ter
NM_001321397.1:c.1168G>T NP_001308326.1:p.Glu390Ter
NM_001099856.6:c.1375G>T NP_001093326.2:p.Glu459Ter
NM_001099857.4:c.1171G>T NP_001093327.1:p.Glu391Ter
NM_001145255.4:c.874G>T NP_001138727.1:p.Glu292Ter
NM_001321396.3:c.1171G>T NP_001308325.1:p.Glu391Ter
NM_001321397.3:c.1168G>T NP_001308326.1:p.Glu390Ter
NM_001377312.1:c.1171G>T NP_001364241.1:p.Glu391Ter
NM_001377313.1:c.1168G>T NP_001364242.1:p.Glu390Ter
NM_001377314.1:c.1015G>T NP_001364243.1:p.Glu339Ter
NM_001377315.1:c.802G>T NP_001364244.1:p.Glu268Ter
NR_165197.1:n.1040G>T
NM_001099857.5:c.1171G>T MANE Select NP_001093327.1:p.Glu391Ter
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