Canonical Allele Identifier: CA219237

Gene: IKBKG

Linked Data

• ClinVar Variation Id: 68239
• ClinVar RCV Id: RCV000059075 ; RCV000589891
• dbSNP Id: rs179363867
• MyVariant Identifiers: chrX:g.153791792G>A (hg19) ; chrX:g.154563577G>A (hg38)
• PubMed: PMID:15833888 ; PMID:16532398 ; PMID:16818673 ; PMID:16950813 ; PMID:17072331 ; PMID:21622647 ; PMID:24682681 ; PMID:26117626

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154563577G>A , CM000685.2:g.154563577G>A	GRCh38
NC_000023.10:g.153791792G>A , CM000685.1:g.153791792G>A	GRCh37
NC_000023.9:g.153444986G>A	NCBI36
NG_009896.1:g.26334G>A , LRG_70:g.26334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.895G>A	ENSP00000398579.2:p.Asp299Asn
ENST00000422680.6:c.931G>A	ENSP00000390368.3:p.Asp311Asn
ENST00000440286.6:c.931G>A	ENSP00000394934.2:p.Asp311Asn
ENST00000445622.6:c.931G>A	ENSP00000395205.2:p.Asp311Asn
ENST00000615186.5:c.529G>A	ENSP00000479144.2:p.Asp177Asn
ENST00000686774.1:c.*312G>A	ENSP00000510218.1:n.*312G>A
ENST00000687445.1:n.2328G>A
ENST00000689906.1:c.778G>A	ENSP00000508630.1:p.Asp260Asn
ENST00000692948.1:c.988G>A	ENSP00000508773.1:p.Asp330Asn
ENST00000693029.1:n.2331G>A
ENST00000594239.6:c.931G>A MANE Select	ENSP00000471166.1:p.Asp311Asn
ENST00000594239.5:c.931G>A	ENSP00000471166.1:p.Asp311Asn
ENST00000611071.4:c.931G>A	ENSP00000479662.1:p.Asp311Asn
ENST00000611176.4:c.634G>A	ENSP00000478616.1:p.Asp212Asn
ENST00000612051.1:c.*923G>A	ENSP00000480431.1:n.*923G>A
ENST00000615874.4:c.907G>A	ENSP00000483381.1:p.Asp303Asn
ENST00000617207.4:c.928G>A	ENSP00000484023.1:p.Asp310Asn
ENST00000618670.4:c.1135G>A	ENSP00000483825.1:p.Asp379Asn
ENST00000619941.4:c.910G>A	ENSP00000478979.1:p.Asp304Asn
NM_001099856.3:c.1135G>A	NP_001093326.2:p.Asp379Asn
NM_001099857.2:c.931G>A	NP_001093327.1:p.Asp311Asn
NM_001145255.2:c.634G>A	NP_001138727.1:p.Asp212Asn
NM_003639.4:c.931G>A	NP_003630.1:p.Asp311Asn
XM_005274760.3:c.1132G>A	XP_005274817.1:p.Asp378Asn
XM_005274761.3:c.1135G>A	XP_005274818.1:p.Asp379Asn
XM_005274764.3:c.928G>A	XP_005274821.1:p.Asp310Asn
XM_011531203.1:c.982G>A	XP_011529505.1:p.Asp328Asn
XM_011531204.1:c.931G>A	XP_011529506.1:p.Asp311Asn
XM_011531205.1:c.931G>A	XP_011529507.1:p.Asp311Asn
NM_001099856.4:c.1135G>A	NP_001093326.2:p.Asp379Asn
NM_001321396.1:c.931G>A	NP_001308325.1:p.Asp311Asn
NM_001321397.1:c.928G>A	NP_001308326.1:p.Asp310Asn
NM_001099856.6:c.1135G>A	NP_001093326.2:p.Asp379Asn
NM_001099857.4:c.931G>A	NP_001093327.1:p.Asp311Asn
NM_001145255.4:c.634G>A	NP_001138727.1:p.Asp212Asn
NM_001321396.3:c.931G>A	NP_001308325.1:p.Asp311Asn
NM_001321397.3:c.928G>A	NP_001308326.1:p.Asp310Asn
NM_001377312.1:c.931G>A	NP_001364241.1:p.Asp311Asn
NM_001377313.1:c.928G>A	NP_001364242.1:p.Asp310Asn
NM_001377314.1:c.775G>A	NP_001364243.1:p.Asp259Asn
NM_001377315.1:c.562G>A	NP_001364244.1:p.Asp188Asn
NR_165197.1:n.800G>A
NM_001099857.5:c.931G>A MANE Select	NP_001093327.1:p.Asp311Asn