Canonical Allele Identifier: CA214035
Gene: IKBKG HGNC NCBI

Linked Data

ClinVar Variation Id: 36382
ClinVar RCV Id: RCV000030051
dbSNP Id: rs386134240

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154558602A>C , CM000685.2:g.154558602A>C GRCh38
NC_000023.10:g.153786817A>C , CM000685.1:g.153786817A>C GRCh37
NC_000023.9:g.153440011A>C NCBI36
NG_009896.1:g.21359A>C , LRG_70:g.21359A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.434A>C ENSP00000398579.2:p.Gln145Pro
ENST00000422680.6:c.470A>C ENSP00000390368.3:p.Gln157Pro
ENST00000440286.6:c.470A>C ENSP00000394934.2:p.Gln157Pro
ENST00000445622.6:c.470A>C ENSP00000395205.2:p.Gln157Pro
ENST00000615186.5:c.68A>C ENSP00000479144.2:p.Gln23Pro
ENST00000686774.1:c.470A>C ENSP00000510218.1:p.Gln157Pro
ENST00000687445.1:n.842A>C
ENST00000689906.1:c.470A>C ENSP00000508630.1:p.Gln157Pro
ENST00000692816.1:n.845A>C
ENST00000692948.1:c.470A>C ENSP00000508773.1:p.Gln157Pro
ENST00000693029.1:n.845A>C
ENST00000594239.6:c.470A>C MANE Select ENSP00000471166.1:p.Gln157Pro
ENST00000413620.5:c.434A>C ENSP00000398579.1:p.Gln145Pro
ENST00000422680.5:c.470A>C ENSP00000390368.2:p.Gln157Pro
ENST00000440286.5:c.470A>C ENSP00000394934.1:p.Gln157Pro
ENST00000594239.5:c.470A>C ENSP00000471166.1:p.Gln157Pro
ENST00000611071.4:c.470A>C ENSP00000479662.1:p.Gln157Pro
ENST00000611176.4:c.470A>C ENSP00000478616.1:p.Gln157Pro
ENST00000612051.1:c.*462A>C ENSP00000480431.1:n.*462A>C
ENST00000615186.4:c.68A>C ENSP00000479144.1:p.Gln23Pro
ENST00000615874.4:c.467A>C ENSP00000483381.1:p.Gln156Pro
ENST00000617207.4:c.467A>C ENSP00000484023.1:p.Gln156Pro
ENST00000617838.1:n.200-4208A>C
ENST00000618670.4:c.674A>C ENSP00000483825.1:p.Gln225Pro
ENST00000619941.4:c.470A>C ENSP00000478979.1:p.Gln157Pro
NM_001099856.3:c.674A>C NP_001093326.2:p.Gln225Pro
NM_001099857.2:c.470A>C NP_001093327.1:p.Gln157Pro
NM_001145255.2:c.470A>C NP_001138727.1:p.Gln157Pro
NM_003639.4:c.470A>C NP_003630.1:p.Gln157Pro
XM_005274760.3:c.671A>C XP_005274817.1:p.Gln224Pro
XM_005274761.3:c.674A>C XP_005274818.1:p.Gln225Pro
XM_005274764.3:c.467A>C XP_005274821.1:p.Gln156Pro
XM_011531203.1:c.674A>C XP_011529505.1:p.Gln225Pro
XM_011531204.1:c.470A>C XP_011529506.1:p.Gln157Pro
XM_011531205.1:c.470A>C XP_011529507.1:p.Gln157Pro
XM_011531206.1:c.674A>C XP_011529508.1:p.Gln225Pro
XM_011531207.1:c.674A>C XP_011529509.1:p.Gln225Pro
NM_001099856.4:c.674A>C NP_001093326.2:p.Gln225Pro
NM_001321396.1:c.470A>C NP_001308325.1:p.Gln157Pro
NM_001321397.1:c.467A>C NP_001308326.1:p.Gln156Pro
NM_001099856.6:c.674A>C NP_001093326.2:p.Gln225Pro
NM_001099857.4:c.470A>C NP_001093327.1:p.Gln157Pro
NM_001145255.4:c.470A>C NP_001138727.1:p.Gln157Pro
NM_001321396.3:c.470A>C NP_001308325.1:p.Gln157Pro
NM_001321397.3:c.467A>C NP_001308326.1:p.Gln156Pro
NM_001377312.1:c.470A>C NP_001364241.1:p.Gln157Pro
NM_001377313.1:c.467A>C NP_001364242.1:p.Gln156Pro
NM_001377314.1:c.467A>C NP_001364243.1:p.Gln156Pro
NM_001377315.1:c.399+2226A>C NP_001364244.1:n.399+2226A>C
NR_165197.1:n.540+2226A>C
NM_001099857.5:c.470A>C MANE Select NP_001093327.1:p.Gln157Pro