Canonical Allele Identifier: CA415215745
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154561773G>T , CM000685.2:g.154561773G>T GRCh38
NC_000023.10:g.153789988G>T , CM000685.1:g.153789988G>T GRCh37
NC_000023.9:g.153443182G>T NCBI36
NG_009896.1:g.24530G>T , LRG_70:g.24530G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.721G>T ENSP00000398579.2:p.Glu241Ter
ENST00000422680.6:c.757G>T ENSP00000390368.3:p.Glu253Ter
ENST00000440286.6:c.757G>T ENSP00000394934.2:p.Glu253Ter
ENST00000445622.6:c.757G>T ENSP00000395205.2:p.Glu253Ter
ENST00000615186.5:c.355G>T ENSP00000479144.2:p.Glu119Ter
ENST00000686774.1:c.*138G>T ENSP00000510218.1:n.*138G>T
ENST00000687445.1:n.1129G>T
ENST00000689906.1:c.604G>T ENSP00000508630.1:p.Glu202Ter
ENST00000692948.1:c.814G>T ENSP00000508773.1:p.Glu272Ter
ENST00000693029.1:n.1132G>T
ENST00000594239.6:c.757G>T MANE Select ENSP00000471166.1:p.Glu253Ter
ENST00000594239.5:c.757G>T ENSP00000471166.1:p.Glu253Ter
ENST00000611071.4:c.757G>T ENSP00000479662.1:p.Glu253Ter
ENST00000611176.4:c.604G>T ENSP00000478616.1:p.Glu202Ter
ENST00000612051.1:c.*749G>T ENSP00000480431.1:n.*749G>T
ENST00000615874.4:c.744+10G>T ENSP00000483381.1:n.744+10G>T
ENST00000617207.4:c.754G>T ENSP00000484023.1:p.Glu252Ter
ENST00000617838.1:n.200-1037G>T
ENST00000618670.4:c.961G>T ENSP00000483825.1:p.Glu321Ter
ENST00000619941.4:c.747+10G>T ENSP00000478979.1:n.747+10G>T
NM_001099856.3:c.961G>T NP_001093326.2:p.Glu321Ter
NM_001099857.2:c.757G>T NP_001093327.1:p.Glu253Ter
NM_001145255.2:c.604G>T NP_001138727.1:p.Glu202Ter
NM_003639.4:c.757G>T NP_003630.1:p.Glu253Ter
XM_005274760.3:c.958G>T XP_005274817.1:p.Glu320Ter
XM_005274761.3:c.961G>T XP_005274818.1:p.Glu321Ter
XM_005274764.3:c.754G>T XP_005274821.1:p.Glu252Ter
XM_011531203.1:c.808G>T XP_011529505.1:p.Glu270Ter
XM_011531204.1:c.757G>T XP_011529506.1:p.Glu253Ter
XM_011531205.1:c.757G>T XP_011529507.1:p.Glu253Ter
NM_001099856.4:c.961G>T NP_001093326.2:p.Glu321Ter
NM_001321396.1:c.757G>T NP_001308325.1:p.Glu253Ter
NM_001321397.1:c.754G>T NP_001308326.1:p.Glu252Ter
NM_001099856.6:c.961G>T NP_001093326.2:p.Glu321Ter
NM_001099857.4:c.757G>T NP_001093327.1:p.Glu253Ter
NM_001145255.4:c.604G>T NP_001138727.1:p.Glu202Ter
NM_001321396.3:c.757G>T NP_001308325.1:p.Glu253Ter
NM_001321397.3:c.754G>T NP_001308326.1:p.Glu252Ter
NM_001377312.1:c.757G>T NP_001364241.1:p.Glu253Ter
NM_001377313.1:c.754G>T NP_001364242.1:p.Glu252Ter
NM_001377314.1:c.601G>T NP_001364243.1:p.Glu201Ter
NM_001377315.1:c.400-1037G>T NP_001364244.1:n.400-1037G>T
NR_165197.1:n.626G>T
NM_001099857.5:c.757G>T MANE Select NP_001093327.1:p.Glu253Ter