Canonical Allele Identifier: CA415215288

Gene: IKBKG

Linked Data

• ClinVar Variation Id: 974981
• ClinVar RCV Id: RCV001251338 ; RCV002307712
• dbSNP Id: rs2071133474
• MyVariant Identifiers: chrX:g.153789937C>T (hg19) ; chrX:g.154561722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154561722C>T , CM000685.2:g.154561722C>T	GRCh38
NC_000023.10:g.153789937C>T , CM000685.1:g.153789937C>T	GRCh37
NC_000023.9:g.153443131C>T	NCBI36
NG_009896.1:g.24479C>T , LRG_70:g.24479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.670C>T	ENSP00000398579.2:p.Gln224Ter
ENST00000422680.6:c.706C>T	ENSP00000390368.3:p.Gln236Ter
ENST00000440286.6:c.706C>T	ENSP00000394934.2:p.Gln236Ter
ENST00000445622.6:c.706C>T	ENSP00000395205.2:p.Gln236Ter
ENST00000615186.5:c.304C>T	ENSP00000479144.2:p.Gln102Ter
ENST00000686774.1:c.*87C>T	ENSP00000510218.1:n.*87C>T
ENST00000687445.1:n.1078C>T
ENST00000689906.1:c.553C>T	ENSP00000508630.1:p.Gln185Ter
ENST00000692948.1:c.763C>T	ENSP00000508773.1:p.Gln255Ter
ENST00000693029.1:n.1081C>T
ENST00000594239.6:c.706C>T MANE Select	ENSP00000471166.1:p.Gln236Ter
ENST00000440286.5:c.706C>T	ENSP00000394934.1:p.Gln236Ter
ENST00000594239.5:c.706C>T	ENSP00000471166.1:p.Gln236Ter
ENST00000611071.4:c.706C>T	ENSP00000479662.1:p.Gln236Ter
ENST00000611176.4:c.553C>T	ENSP00000478616.1:p.Gln185Ter
ENST00000612051.1:c.*698C>T	ENSP00000480431.1:n.*698C>T
ENST00000615186.4:c.304C>T	ENSP00000479144.1:p.Gln102Ter
ENST00000615874.4:c.703C>T	ENSP00000483381.1:p.Gln235Ter
ENST00000617207.4:c.703C>T	ENSP00000484023.1:p.Gln235Ter
ENST00000617838.1:n.200-1088C>T
ENST00000618670.4:c.910C>T	ENSP00000483825.1:p.Gln304Ter
ENST00000619941.4:c.706C>T	ENSP00000478979.1:p.Gln236Ter
NM_001099856.3:c.910C>T	NP_001093326.2:p.Gln304Ter
NM_001099857.2:c.706C>T	NP_001093327.1:p.Gln236Ter
NM_001145255.2:c.553C>T	NP_001138727.1:p.Gln185Ter
NM_003639.4:c.706C>T	NP_003630.1:p.Gln236Ter
XM_005274760.3:c.907C>T	XP_005274817.1:p.Gln303Ter
XM_005274761.3:c.910C>T	XP_005274818.1:p.Gln304Ter
XM_005274764.3:c.703C>T	XP_005274821.1:p.Gln235Ter
XM_011531203.1:c.757C>T	XP_011529505.1:p.Gln253Ter
XM_011531204.1:c.706C>T	XP_011529506.1:p.Gln236Ter
XM_011531205.1:c.706C>T	XP_011529507.1:p.Gln236Ter
NM_001099856.4:c.910C>T	NP_001093326.2:p.Gln304Ter
NM_001321396.1:c.706C>T	NP_001308325.1:p.Gln236Ter
NM_001321397.1:c.703C>T	NP_001308326.1:p.Gln235Ter
NM_001099856.6:c.910C>T	NP_001093326.2:p.Gln304Ter
NM_001099857.4:c.706C>T	NP_001093327.1:p.Gln236Ter
NM_001145255.4:c.553C>T	NP_001138727.1:p.Gln185Ter
NM_001321396.3:c.706C>T	NP_001308325.1:p.Gln236Ter
NM_001321397.3:c.703C>T	NP_001308326.1:p.Gln235Ter
NM_001377312.1:c.706C>T	NP_001364241.1:p.Gln236Ter
NM_001377313.1:c.703C>T	NP_001364242.1:p.Gln235Ter
NM_001377314.1:c.550C>T	NP_001364243.1:p.Gln184Ter
NM_001377315.1:c.400-1088C>T	NP_001364244.1:n.400-1088C>T
NR_165197.1:n.575C>T
NM_001099857.5:c.706C>T MANE Select	NP_001093327.1:p.Gln236Ter