Canonical Allele Identifier: CA415219449
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564361G>T , CM000685.2:g.154564361G>T GRCh38
NC_000023.10:g.153792576G>T , CM000685.1:g.153792576G>T GRCh37
NC_000023.9:g.153445770G>T NCBI36
NG_009896.1:g.27118G>T , LRG_70:g.27118G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000413620.6:c.1124G>T ENSP00000398579.2:p.Ser375Ile
ENST00000422680.6:c.1160G>T ENSP00000390368.3:p.Ser387Ile
ENST00000440286.6:c.1160G>T ENSP00000394934.2:p.Ser387Ile
ENST00000445622.6:c.1160G>T ENSP00000395205.2:p.Ser387Ile
ENST00000615186.5:c.758G>T ENSP00000479144.2:p.Ser253Ile
ENST00000689906.1:c.1007G>T ENSP00000508630.1:p.Ser336Ile
ENST00000692948.1:c.1217G>T ENSP00000508773.1:p.Ser406Ile
ENST00000594239.6:c.1160G>T MANE Select ENSP00000471166.1:p.Ser387Ile
ENST00000594239.5:c.1160G>T ENSP00000471166.1:p.Ser387Ile
ENST00000611071.4:c.1160G>T ENSP00000479662.1:p.Ser387Ile
ENST00000611176.4:c.863G>T ENSP00000478616.1:p.Ser288Ile
ENST00000612051.1:c.*1152G>T ENSP00000480431.1:n.*1152G>T
ENST00000615874.4:c.1136G>T ENSP00000483381.1:p.Ser379Ile
ENST00000617207.4:c.1157G>T ENSP00000484023.1:p.Ser386Ile
ENST00000618670.4:c.1364G>T ENSP00000483825.1:p.Ser455Ile
ENST00000619941.4:c.1139G>T ENSP00000478979.1:p.Ser380Ile
NM_001099856.3:c.1364G>T NP_001093326.2:p.Ser455Ile
NM_001099857.2:c.1160G>T NP_001093327.1:p.Ser387Ile
NM_001145255.2:c.863G>T NP_001138727.1:p.Ser288Ile
NM_003639.4:c.1160G>T NP_003630.1:p.Ser387Ile
XM_005274760.3:c.1361G>T XP_005274817.1:p.Ser454Ile
XM_005274761.3:c.1321+341G>T XP_005274818.1:n.1321+341G>T
XM_005274764.3:c.1157G>T XP_005274821.1:p.Ser386Ile
XM_011531203.1:c.1211G>T XP_011529505.1:p.Ser404Ile
XM_011531204.1:c.1160G>T XP_011529506.1:p.Ser387Ile
XM_011531205.1:c.1160G>T XP_011529507.1:p.Ser387Ile
NM_001099856.4:c.1364G>T NP_001093326.2:p.Ser455Ile
NM_001321396.1:c.1160G>T NP_001308325.1:p.Ser387Ile
NM_001321397.1:c.1157G>T NP_001308326.1:p.Ser386Ile
NM_001099856.6:c.1364G>T NP_001093326.2:p.Ser455Ile
NM_001099857.4:c.1160G>T NP_001093327.1:p.Ser387Ile
NM_001145255.4:c.863G>T NP_001138727.1:p.Ser288Ile
NM_001321396.3:c.1160G>T NP_001308325.1:p.Ser387Ile
NM_001321397.3:c.1157G>T NP_001308326.1:p.Ser386Ile
NM_001377312.1:c.1160G>T NP_001364241.1:p.Ser387Ile
NM_001377313.1:c.1157G>T NP_001364242.1:p.Ser386Ile
NM_001377314.1:c.1004G>T NP_001364243.1:p.Ser335Ile
NM_001377315.1:c.791G>T NP_001364244.1:p.Ser264Ile
NR_165197.1:n.1029G>T
NM_001099857.5:c.1160G>T MANE Select NP_001093327.1:p.Ser387Ile