Canonical Allele Identifier: CA415216125
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154562847A>T , CM000685.2:g.154562847A>T GRCh38
NC_000023.10:g.153791062A>T , CM000685.1:g.153791062A>T GRCh37
NC_000023.9:g.153444256A>T NCBI36
NG_009896.1:g.25604A>T , LRG_70:g.25604A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.770A>T ENSP00000398579.2:p.Gln257Leu
ENST00000422680.6:c.806A>T ENSP00000390368.3:p.Gln269Leu
ENST00000440286.6:c.806A>T ENSP00000394934.2:p.Gln269Leu
ENST00000445622.6:c.806A>T ENSP00000395205.2:p.Gln269Leu
ENST00000615186.5:c.404A>T ENSP00000479144.2:p.Gln135Leu
ENST00000686774.1:c.*187A>T ENSP00000510218.1:n.*187A>T
ENST00000687445.1:n.2203A>T
ENST00000689906.1:c.653A>T ENSP00000508630.1:p.Gln218Leu
ENST00000692948.1:c.863A>T ENSP00000508773.1:p.Gln288Leu
ENST00000693029.1:n.2206A>T
ENST00000594239.6:c.806A>T MANE Select ENSP00000471166.1:p.Gln269Leu
ENST00000594239.5:c.806A>T ENSP00000471166.1:p.Gln269Leu
ENST00000611071.4:c.806A>T ENSP00000479662.1:p.Gln269Leu
ENST00000611176.4:c.616-712A>T ENSP00000478616.1:n.616-712A>T
ENST00000612051.1:c.*798A>T ENSP00000480431.1:n.*798A>T
ENST00000615874.4:c.782A>T ENSP00000483381.1:p.Gln261Leu
ENST00000617207.4:c.803A>T ENSP00000484023.1:p.Gln268Leu
ENST00000617838.1:n.237A>T
ENST00000618670.4:c.1010A>T ENSP00000483825.1:p.Gln337Leu
ENST00000619941.4:c.785A>T ENSP00000478979.1:p.Gln262Leu
NM_001099856.3:c.1010A>T NP_001093326.2:p.Gln337Leu
NM_001099857.2:c.806A>T NP_001093327.1:p.Gln269Leu
NM_001145255.2:c.616-712A>T NP_001138727.1:n.616-712A>T
NM_003639.4:c.806A>T NP_003630.1:p.Gln269Leu
XM_005274760.3:c.1007A>T XP_005274817.1:p.Gln336Leu
XM_005274761.3:c.1010A>T XP_005274818.1:p.Gln337Leu
XM_005274764.3:c.803A>T XP_005274821.1:p.Gln268Leu
XM_011531203.1:c.857A>T XP_011529505.1:p.Gln286Leu
XM_011531204.1:c.806A>T XP_011529506.1:p.Gln269Leu
XM_011531205.1:c.806A>T XP_011529507.1:p.Gln269Leu
NM_001099856.4:c.1010A>T NP_001093326.2:p.Gln337Leu
NM_001321396.1:c.806A>T NP_001308325.1:p.Gln269Leu
NM_001321397.1:c.803A>T NP_001308326.1:p.Gln268Leu
NM_001099856.6:c.1010A>T NP_001093326.2:p.Gln337Leu
NM_001099857.4:c.806A>T NP_001093327.1:p.Gln269Leu
NM_001145255.4:c.616-712A>T NP_001138727.1:n.616-712A>T
NM_001321396.3:c.806A>T NP_001308325.1:p.Gln269Leu
NM_001321397.3:c.803A>T NP_001308326.1:p.Gln268Leu
NM_001377312.1:c.806A>T NP_001364241.1:p.Gln269Leu
NM_001377313.1:c.803A>T NP_001364242.1:p.Gln268Leu
NM_001377314.1:c.650A>T NP_001364243.1:p.Gln217Leu
NM_001377315.1:c.437A>T NP_001364244.1:p.Gln146Leu
NR_165197.1:n.675A>T
NM_001099857.5:c.806A>T MANE Select NP_001093327.1:p.Gln269Leu