Canonical Allele Identifier: CA121467
Gene: IKBKG HGNC NCBI

Linked Data

ClinVar Variation Id: 11450
ClinVar RCV Id: RCV000012203 RCV000170521
dbSNP Id: rs137853321
MyVariant Identifiers: chrX:g.153792675A>G (hg19) chrX:g.154564460A>G (hg38)
PubMed: PMID:10839543 PMID:11242109
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564460A>G , CM000685.2:g.154564460A>G GRCh38
NC_000023.10:g.153792675A>G , CM000685.1:g.153792675A>G GRCh37
NC_000023.9:g.153445869A>G NCBI36
NG_009896.1:g.27217A>G , LRG_70:g.27217A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000413620.6:c.1223A>G ENSP00000398579.2:p.Ter408Trp
ENST00000422680.6:c.1259A>G ENSP00000390368.3:p.Ter420Trp
ENST00000440286.6:c.1259A>G ENSP00000394934.2:p.Ter420Trp
ENST00000445622.6:c.1259A>G ENSP00000395205.2:p.Ter420Trp
ENST00000615186.5:c.857A>G ENSP00000479144.2:p.Ter286Trp
ENST00000689906.1:c.1106A>G ENSP00000508630.1:p.Ter369Trp
ENST00000692948.1:c.1316A>G ENSP00000508773.1:p.Ter439Trp
ENST00000594239.6:c.1259A>G MANE Select ENSP00000471166.1:p.Ter420Trp
ENST00000594239.5:c.1259A>G ENSP00000471166.1:p.Ter420Trp
ENST00000611071.4:c.1259A>G ENSP00000479662.1:p.Ter420Trp
ENST00000611176.4:c.962A>G ENSP00000478616.1:p.Ter321Trp
ENST00000612051.1:c.*1251A>G ENSP00000480431.1:n.*1251A>G
ENST00000615874.4:c.1235A>G ENSP00000483381.1:p.Ter412Trp
ENST00000617207.4:c.1256A>G ENSP00000484023.1:p.Ter419Trp
ENST00000618670.4:c.1463A>G ENSP00000483825.1:p.Ter488Trp
ENST00000619941.4:c.1238A>G ENSP00000478979.1:p.Ter413Trp
NM_001099856.3:c.1463A>G NP_001093326.2:p.Ter488Trp
NM_001099857.2:c.1259A>G NP_001093327.1:p.Ter420Trp
NM_001145255.2:c.962A>G NP_001138727.1:p.Ter321Trp
NM_003639.4:c.1259A>G NP_003630.1:p.Ter420Trp
XM_005274760.3:c.1460A>G XP_005274817.1:p.Ter487Trp
XM_005274761.3:c.1321+440A>G XP_005274818.1:n.1321+440A>G
XM_005274764.3:c.1256A>G XP_005274821.1:p.Ter419Trp
XM_011531203.1:c.1310A>G XP_011529505.1:p.Ter437Trp
XM_011531204.1:c.1259A>G XP_011529506.1:p.Ter420Trp
XM_011531205.1:c.1259A>G XP_011529507.1:p.Ter420Trp
NM_001099856.4:c.1463A>G NP_001093326.2:p.Ter488Trp
NM_001321396.1:c.1259A>G NP_001308325.1:p.Ter420Trp
NM_001321397.1:c.1256A>G NP_001308326.1:p.Ter419Trp
NM_001099856.6:c.1463A>G NP_001093326.2:p.Ter488Trp
NM_001099857.4:c.1259A>G NP_001093327.1:p.Ter420Trp
NM_001145255.4:c.962A>G NP_001138727.1:p.Ter321Trp
NM_001321396.3:c.1259A>G NP_001308325.1:p.Ter420Trp
NM_001321397.3:c.1256A>G NP_001308326.1:p.Ter419Trp
NM_001377312.1:c.1259A>G NP_001364241.1:p.Ter420Trp
NM_001377313.1:c.1256A>G NP_001364242.1:p.Ter419Trp
NM_001377314.1:c.1103A>G NP_001364243.1:p.Ter368Trp
NM_001377315.1:c.890A>G NP_001364244.1:p.Ter297Trp
NR_165197.1:n.1128A>G
NM_001099857.5:c.1259A>G MANE Select NP_001093327.1:p.Ter420Trp
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