Canonical Allele Identifier: CA415215239
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154561710G>T , CM000685.2:g.154561710G>T GRCh38
NC_000023.10:g.153789925G>T , CM000685.1:g.153789925G>T GRCh37
NC_000023.9:g.153443119G>T NCBI36
NG_009896.1:g.24467G>T , LRG_70:g.24467G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.658G>T ENSP00000398579.2:p.Val220Leu
ENST00000422680.6:c.694G>T ENSP00000390368.3:p.Val232Leu
ENST00000440286.6:c.694G>T ENSP00000394934.2:p.Val232Leu
ENST00000445622.6:c.694G>T ENSP00000395205.2:p.Val232Leu
ENST00000615186.5:c.292G>T ENSP00000479144.2:p.Val98Leu
ENST00000686774.1:c.*75G>T ENSP00000510218.1:n.*75G>T
ENST00000687445.1:n.1066G>T
ENST00000689906.1:c.541G>T ENSP00000508630.1:p.Val181Leu
ENST00000692948.1:c.751G>T ENSP00000508773.1:p.Val251Leu
ENST00000693029.1:n.1069G>T
ENST00000594239.6:c.694G>T MANE Select ENSP00000471166.1:p.Val232Leu
ENST00000440286.5:c.694G>T ENSP00000394934.1:p.Val232Leu
ENST00000594239.5:c.694G>T ENSP00000471166.1:p.Val232Leu
ENST00000611071.4:c.694G>T ENSP00000479662.1:p.Val232Leu
ENST00000611176.4:c.541G>T ENSP00000478616.1:p.Val181Leu
ENST00000612051.1:c.*686G>T ENSP00000480431.1:n.*686G>T
ENST00000615186.4:c.292G>T ENSP00000479144.1:p.Val98Leu
ENST00000615874.4:c.691G>T ENSP00000483381.1:p.Val231Leu
ENST00000617207.4:c.691G>T ENSP00000484023.1:p.Val231Leu
ENST00000617838.1:n.200-1100G>T
ENST00000618670.4:c.898G>T ENSP00000483825.1:p.Val300Leu
ENST00000619941.4:c.694G>T ENSP00000478979.1:p.Val232Leu
NM_001099856.3:c.898G>T NP_001093326.2:p.Val300Leu
NM_001099857.2:c.694G>T NP_001093327.1:p.Val232Leu
NM_001145255.2:c.541G>T NP_001138727.1:p.Val181Leu
NM_003639.4:c.694G>T NP_003630.1:p.Val232Leu
XM_005274760.3:c.895G>T XP_005274817.1:p.Val299Leu
XM_005274761.3:c.898G>T XP_005274818.1:p.Val300Leu
XM_005274764.3:c.691G>T XP_005274821.1:p.Val231Leu
XM_011531203.1:c.745G>T XP_011529505.1:p.Val249Leu
XM_011531204.1:c.694G>T XP_011529506.1:p.Val232Leu
XM_011531205.1:c.694G>T XP_011529507.1:p.Val232Leu
NM_001099856.4:c.898G>T NP_001093326.2:p.Val300Leu
NM_001321396.1:c.694G>T NP_001308325.1:p.Val232Leu
NM_001321397.1:c.691G>T NP_001308326.1:p.Val231Leu
NM_001099856.6:c.898G>T NP_001093326.2:p.Val300Leu
NM_001099857.4:c.694G>T NP_001093327.1:p.Val232Leu
NM_001145255.4:c.541G>T NP_001138727.1:p.Val181Leu
NM_001321396.3:c.694G>T NP_001308325.1:p.Val232Leu
NM_001321397.3:c.691G>T NP_001308326.1:p.Val231Leu
NM_001377312.1:c.694G>T NP_001364241.1:p.Val232Leu
NM_001377313.1:c.691G>T NP_001364242.1:p.Val231Leu
NM_001377314.1:c.538G>T NP_001364243.1:p.Val180Leu
NM_001377315.1:c.400-1100G>T NP_001364244.1:n.400-1100G>T
NR_165197.1:n.563G>T
NM_001099857.5:c.694G>T MANE Select NP_001093327.1:p.Val232Leu