Canonical Allele Identifier: CA219219

Gene: IKBKG

Linked Data

• ClinVar Variation Id: 68233
• ClinVar RCV Id: RCV000059067
• dbSNP Id: rs137853326
• MyVariant Identifiers: chrX:g.153792666G>A (hg19) ; chrX:g.154564451G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154564451G>A , CM000685.2:g.154564451G>A	GRCh38
NC_000023.10:g.153792666G>A , CM000685.1:g.153792666G>A	GRCh37
NC_000023.9:g.153445860G>A	NCBI36
NG_009896.1:g.27208G>A , LRG_70:g.27208G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413620.6:c.1214G>A	ENSP00000398579.2:p.Cys405Tyr
ENST00000422680.6:c.1250G>A	ENSP00000390368.3:p.Cys417Tyr
ENST00000440286.6:c.1250G>A	ENSP00000394934.2:p.Cys417Tyr
ENST00000445622.6:c.1250G>A	ENSP00000395205.2:p.Cys417Tyr
ENST00000615186.5:c.848G>A	ENSP00000479144.2:p.Cys283Tyr
ENST00000689906.1:c.1097G>A	ENSP00000508630.1:p.Cys366Tyr
ENST00000692948.1:c.1307G>A	ENSP00000508773.1:p.Cys436Tyr
ENST00000594239.6:c.1250G>A MANE Select	ENSP00000471166.1:p.Cys417Tyr
ENST00000594239.5:c.1250G>A	ENSP00000471166.1:p.Cys417Tyr
ENST00000611071.4:c.1250G>A	ENSP00000479662.1:p.Cys417Tyr
ENST00000611176.4:c.953G>A	ENSP00000478616.1:p.Cys318Tyr
ENST00000612051.1:c.*1242G>A	ENSP00000480431.1:n.*1242G>A
ENST00000615874.4:c.1226G>A	ENSP00000483381.1:p.Cys409Tyr
ENST00000617207.4:c.1247G>A	ENSP00000484023.1:p.Cys416Tyr
ENST00000618670.4:c.1454G>A	ENSP00000483825.1:p.Cys485Tyr
ENST00000619941.4:c.1229G>A	ENSP00000478979.1:p.Cys410Tyr
NM_001099856.3:c.1454G>A	NP_001093326.2:p.Cys485Tyr
NM_001099857.2:c.1250G>A	NP_001093327.1:p.Cys417Tyr
NM_001145255.2:c.953G>A	NP_001138727.1:p.Cys318Tyr
NM_003639.4:c.1250G>A	NP_003630.1:p.Cys417Tyr
XM_005274760.3:c.1451G>A	XP_005274817.1:p.Cys484Tyr
XM_005274761.3:c.1321+431G>A	XP_005274818.1:n.1321+431G>A
XM_005274764.3:c.1247G>A	XP_005274821.1:p.Cys416Tyr
XM_011531203.1:c.1301G>A	XP_011529505.1:p.Cys434Tyr
XM_011531204.1:c.1250G>A	XP_011529506.1:p.Cys417Tyr
XM_011531205.1:c.1250G>A	XP_011529507.1:p.Cys417Tyr
NM_001099856.4:c.1454G>A	NP_001093326.2:p.Cys485Tyr
NM_001321396.1:c.1250G>A	NP_001308325.1:p.Cys417Tyr
NM_001321397.1:c.1247G>A	NP_001308326.1:p.Cys416Tyr
NM_001099856.6:c.1454G>A	NP_001093326.2:p.Cys485Tyr
NM_001099857.4:c.1250G>A	NP_001093327.1:p.Cys417Tyr
NM_001145255.4:c.953G>A	NP_001138727.1:p.Cys318Tyr
NM_001321396.3:c.1250G>A	NP_001308325.1:p.Cys417Tyr
NM_001321397.3:c.1247G>A	NP_001308326.1:p.Cys416Tyr
NM_001377312.1:c.1250G>A	NP_001364241.1:p.Cys417Tyr
NM_001377313.1:c.1247G>A	NP_001364242.1:p.Cys416Tyr
NM_001377314.1:c.1094G>A	NP_001364243.1:p.Cys365Tyr
NM_001377315.1:c.881G>A	NP_001364244.1:p.Cys294Tyr
NR_165197.1:n.1119G>A
NM_001099857.5:c.1250G>A MANE Select	NP_001093327.1:p.Cys417Tyr