Canonical Allele Identifier: CA415215229
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154561708A>T , CM000685.2:g.154561708A>T GRCh38
NC_000023.10:g.153789923A>T , CM000685.1:g.153789923A>T GRCh37
NC_000023.9:g.153443117A>T NCBI36
NG_009896.1:g.24465A>T , LRG_70:g.24465A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.656A>T ENSP00000398579.2:p.Gln219Leu
ENST00000422680.6:c.692A>T ENSP00000390368.3:p.Gln231Leu
ENST00000440286.6:c.692A>T ENSP00000394934.2:p.Gln231Leu
ENST00000445622.6:c.692A>T ENSP00000395205.2:p.Gln231Leu
ENST00000615186.5:c.290A>T ENSP00000479144.2:p.Gln97Leu
ENST00000686774.1:c.*73A>T ENSP00000510218.1:n.*73A>T
ENST00000687445.1:n.1064A>T
ENST00000689906.1:c.539A>T ENSP00000508630.1:p.Gln180Leu
ENST00000692948.1:c.749A>T ENSP00000508773.1:p.Gln250Leu
ENST00000693029.1:n.1067A>T
ENST00000594239.6:c.692A>T MANE Select ENSP00000471166.1:p.Gln231Leu
ENST00000440286.5:c.692A>T ENSP00000394934.1:p.Gln231Leu
ENST00000594239.5:c.692A>T ENSP00000471166.1:p.Gln231Leu
ENST00000611071.4:c.692A>T ENSP00000479662.1:p.Gln231Leu
ENST00000611176.4:c.539A>T ENSP00000478616.1:p.Gln180Leu
ENST00000612051.1:c.*684A>T ENSP00000480431.1:n.*684A>T
ENST00000615186.4:c.290A>T ENSP00000479144.1:p.Gln97Leu
ENST00000615874.4:c.689A>T ENSP00000483381.1:p.Gln230Leu
ENST00000617207.4:c.689A>T ENSP00000484023.1:p.Gln230Leu
ENST00000617838.1:n.200-1102A>T
ENST00000618670.4:c.896A>T ENSP00000483825.1:p.Gln299Leu
ENST00000619941.4:c.692A>T ENSP00000478979.1:p.Gln231Leu
NM_001099856.3:c.896A>T NP_001093326.2:p.Gln299Leu
NM_001099857.2:c.692A>T NP_001093327.1:p.Gln231Leu
NM_001145255.2:c.539A>T NP_001138727.1:p.Gln180Leu
NM_003639.4:c.692A>T NP_003630.1:p.Gln231Leu
XM_005274760.3:c.893A>T XP_005274817.1:p.Gln298Leu
XM_005274761.3:c.896A>T XP_005274818.1:p.Gln299Leu
XM_005274764.3:c.689A>T XP_005274821.1:p.Gln230Leu
XM_011531203.1:c.743A>T XP_011529505.1:p.Gln248Leu
XM_011531204.1:c.692A>T XP_011529506.1:p.Gln231Leu
XM_011531205.1:c.692A>T XP_011529507.1:p.Gln231Leu
NM_001099856.4:c.896A>T NP_001093326.2:p.Gln299Leu
NM_001321396.1:c.692A>T NP_001308325.1:p.Gln231Leu
NM_001321397.1:c.689A>T NP_001308326.1:p.Gln230Leu
NM_001099856.6:c.896A>T NP_001093326.2:p.Gln299Leu
NM_001099857.4:c.692A>T NP_001093327.1:p.Gln231Leu
NM_001145255.4:c.539A>T NP_001138727.1:p.Gln180Leu
NM_001321396.3:c.692A>T NP_001308325.1:p.Gln231Leu
NM_001321397.3:c.689A>T NP_001308326.1:p.Gln230Leu
NM_001377312.1:c.692A>T NP_001364241.1:p.Gln231Leu
NM_001377313.1:c.689A>T NP_001364242.1:p.Gln230Leu
NM_001377314.1:c.536A>T NP_001364243.1:p.Gln179Leu
NM_001377315.1:c.400-1102A>T NP_001364244.1:n.400-1102A>T
NR_165197.1:n.561A>T
NM_001099857.5:c.692A>T MANE Select NP_001093327.1:p.Gln231Leu