Canonical Allele Identifier: CA121473

Gene: IKBKG

Linked Data

• ClinVar Variation Id: 11454
• ClinVar RCV Id: RCV000012207
• dbSNP Id: rs137853325
• MyVariant Identifiers: chrX:g.153792665T>C (hg19) ; chrX:g.154564450T>C (hg38)
• PubMed: PMID:11047757 ; PMID:11224521 ; PMID:12045264

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154564450T>C , CM000685.2:g.154564450T>C	GRCh38
NC_000023.10:g.153792665T>C , CM000685.1:g.153792665T>C	GRCh37
NC_000023.9:g.153445859T>C	NCBI36
NG_009896.1:g.27207T>C , LRG_70:g.27207T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.1213T>C	ENSP00000398579.2:p.Cys405Arg
ENST00000422680.6:c.1249T>C	ENSP00000390368.3:p.Cys417Arg
ENST00000440286.6:c.1249T>C	ENSP00000394934.2:p.Cys417Arg
ENST00000445622.6:c.1249T>C	ENSP00000395205.2:p.Cys417Arg
ENST00000615186.5:c.847T>C	ENSP00000479144.2:p.Cys283Arg
ENST00000689906.1:c.1096T>C	ENSP00000508630.1:p.Cys366Arg
ENST00000692948.1:c.1306T>C	ENSP00000508773.1:p.Cys436Arg
ENST00000594239.6:c.1249T>C MANE Select	ENSP00000471166.1:p.Cys417Arg
ENST00000594239.5:c.1249T>C	ENSP00000471166.1:p.Cys417Arg
ENST00000611071.4:c.1249T>C	ENSP00000479662.1:p.Cys417Arg
ENST00000611176.4:c.952T>C	ENSP00000478616.1:p.Cys318Arg
ENST00000612051.1:c.*1241T>C	ENSP00000480431.1:n.*1241T>C
ENST00000615874.4:c.1225T>C	ENSP00000483381.1:p.Cys409Arg
ENST00000617207.4:c.1246T>C	ENSP00000484023.1:p.Cys416Arg
ENST00000618670.4:c.1453T>C	ENSP00000483825.1:p.Cys485Arg
ENST00000619941.4:c.1228T>C	ENSP00000478979.1:p.Cys410Arg
NM_001099856.3:c.1453T>C	NP_001093326.2:p.Cys485Arg
NM_001099857.2:c.1249T>C	NP_001093327.1:p.Cys417Arg
NM_001145255.2:c.952T>C	NP_001138727.1:p.Cys318Arg
NM_003639.4:c.1249T>C	NP_003630.1:p.Cys417Arg
XM_005274760.3:c.1450T>C	XP_005274817.1:p.Cys484Arg
XM_005274761.3:c.1321+430T>C	XP_005274818.1:n.1321+430T>C
XM_005274764.3:c.1246T>C	XP_005274821.1:p.Cys416Arg
XM_011531203.1:c.1300T>C	XP_011529505.1:p.Cys434Arg
XM_011531204.1:c.1249T>C	XP_011529506.1:p.Cys417Arg
XM_011531205.1:c.1249T>C	XP_011529507.1:p.Cys417Arg
NM_001099856.4:c.1453T>C	NP_001093326.2:p.Cys485Arg
NM_001321396.1:c.1249T>C	NP_001308325.1:p.Cys417Arg
NM_001321397.1:c.1246T>C	NP_001308326.1:p.Cys416Arg
NM_001099856.6:c.1453T>C	NP_001093326.2:p.Cys485Arg
NM_001099857.4:c.1249T>C	NP_001093327.1:p.Cys417Arg
NM_001145255.4:c.952T>C	NP_001138727.1:p.Cys318Arg
NM_001321396.3:c.1249T>C	NP_001308325.1:p.Cys417Arg
NM_001321397.3:c.1246T>C	NP_001308326.1:p.Cys416Arg
NM_001377312.1:c.1249T>C	NP_001364241.1:p.Cys417Arg
NM_001377313.1:c.1246T>C	NP_001364242.1:p.Cys416Arg
NM_001377314.1:c.1093T>C	NP_001364243.1:p.Cys365Arg
NM_001377315.1:c.880T>C	NP_001364244.1:p.Cys294Arg
NR_165197.1:n.1118T>C
NM_001099857.5:c.1249T>C MANE Select	NP_001093327.1:p.Cys417Arg