Canonical Allele Identifier: CA16621264
Gene: IKBKG HGNC NCBI

Linked Data

ClinVar Variation Id: 418983
ClinVar RCV Id: RCV000486745
dbSNP Id: rs1064793564
MyVariant Identifiers: chrX:g.153792674T>C (hg19) chrX:g.154564459T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564459T>C , CM000685.2:g.154564459T>C GRCh38
NC_000023.10:g.153792674T>C , CM000685.1:g.153792674T>C GRCh37
NC_000023.9:g.153445868T>C NCBI36
NG_009896.1:g.27216T>C , LRG_70:g.27216T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000413620.6:c.1222T>C ENSP00000398579.2:p.Ter408Gln
ENST00000422680.6:c.1258T>C ENSP00000390368.3:p.Ter420Gln
ENST00000440286.6:c.1258T>C ENSP00000394934.2:p.Ter420Gln
ENST00000445622.6:c.1258T>C ENSP00000395205.2:p.Ter420Gln
ENST00000615186.5:c.856T>C ENSP00000479144.2:p.Ter286Gln
ENST00000689906.1:c.1105T>C ENSP00000508630.1:p.Ter369Gln
ENST00000692948.1:c.1315T>C ENSP00000508773.1:p.Ter439Gln
ENST00000594239.6:c.1258T>C MANE Select ENSP00000471166.1:p.Ter420Gln
ENST00000594239.5:c.1258T>C ENSP00000471166.1:p.Ter420Gln
ENST00000611071.4:c.1258T>C ENSP00000479662.1:p.Ter420Gln
ENST00000611176.4:c.961T>C ENSP00000478616.1:p.Ter321Gln
ENST00000612051.1:c.*1250T>C ENSP00000480431.1:n.*1250T>C
ENST00000615874.4:c.1234T>C ENSP00000483381.1:p.Ter412Gln
ENST00000617207.4:c.1255T>C ENSP00000484023.1:p.Ter419Gln
ENST00000618670.4:c.1462T>C ENSP00000483825.1:p.Ter488Gln
ENST00000619941.4:c.1237T>C ENSP00000478979.1:p.Ter413Gln
NM_001099856.3:c.1462T>C NP_001093326.2:p.Ter488Gln
NM_001099857.2:c.1258T>C NP_001093327.1:p.Ter420Gln
NM_001145255.2:c.961T>C NP_001138727.1:p.Ter321Gln
NM_003639.4:c.1258T>C NP_003630.1:p.Ter420Gln
XM_005274760.3:c.1459T>C XP_005274817.1:p.Ter487Gln
XM_005274761.3:c.1321+439T>C XP_005274818.1:n.1321+439T>C
XM_005274764.3:c.1255T>C XP_005274821.1:p.Ter419Gln
XM_011531203.1:c.1309T>C XP_011529505.1:p.Ter437Gln
XM_011531204.1:c.1258T>C XP_011529506.1:p.Ter420Gln
XM_011531205.1:c.1258T>C XP_011529507.1:p.Ter420Gln
NM_001099856.4:c.1462T>C NP_001093326.2:p.Ter488Gln
NM_001321396.1:c.1258T>C NP_001308325.1:p.Ter420Gln
NM_001321397.1:c.1255T>C NP_001308326.1:p.Ter419Gln
NM_001099856.6:c.1462T>C NP_001093326.2:p.Ter488Gln
NM_001099857.4:c.1258T>C NP_001093327.1:p.Ter420Gln
NM_001145255.4:c.961T>C NP_001138727.1:p.Ter321Gln
NM_001321396.3:c.1258T>C NP_001308325.1:p.Ter420Gln
NM_001321397.3:c.1255T>C NP_001308326.1:p.Ter419Gln
NM_001377312.1:c.1258T>C NP_001364241.1:p.Ter420Gln
NM_001377313.1:c.1255T>C NP_001364242.1:p.Ter419Gln
NM_001377314.1:c.1102T>C NP_001364243.1:p.Ter368Gln
NM_001377315.1:c.889T>C NP_001364244.1:p.Ter297Gln
NR_165197.1:n.1127T>C
NM_001099857.5:c.1258T>C MANE Select NP_001093327.1:p.Ter420Gln
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