Canonical Allele Identifier: CA415215328
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154561726T>G , CM000685.2:g.154561726T>G GRCh38
NC_000023.10:g.153789941T>G , CM000685.1:g.153789941T>G GRCh37
NC_000023.9:g.153443135T>G NCBI36
NG_009896.1:g.24483T>G , LRG_70:g.24483T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.674T>G ENSP00000398579.2:p.Leu225Arg
ENST00000422680.6:c.710T>G ENSP00000390368.3:p.Leu237Arg
ENST00000440286.6:c.710T>G ENSP00000394934.2:p.Leu237Arg
ENST00000445622.6:c.710T>G ENSP00000395205.2:p.Leu237Arg
ENST00000615186.5:c.308T>G ENSP00000479144.2:p.Leu103Arg
ENST00000686774.1:c.*91T>G ENSP00000510218.1:n.*91T>G
ENST00000687445.1:n.1082T>G
ENST00000689906.1:c.557T>G ENSP00000508630.1:p.Leu186Arg
ENST00000692948.1:c.767T>G ENSP00000508773.1:p.Leu256Arg
ENST00000693029.1:n.1085T>G
ENST00000594239.6:c.710T>G MANE Select ENSP00000471166.1:p.Leu237Arg
ENST00000440286.5:c.710T>G ENSP00000394934.1:p.Leu237Arg
ENST00000594239.5:c.710T>G ENSP00000471166.1:p.Leu237Arg
ENST00000611071.4:c.710T>G ENSP00000479662.1:p.Leu237Arg
ENST00000611176.4:c.557T>G ENSP00000478616.1:p.Leu186Arg
ENST00000612051.1:c.*702T>G ENSP00000480431.1:n.*702T>G
ENST00000615186.4:c.308T>G ENSP00000479144.1:p.Leu103Arg
ENST00000615874.4:c.707T>G ENSP00000483381.1:p.Leu236Arg
ENST00000617207.4:c.707T>G ENSP00000484023.1:p.Leu236Arg
ENST00000617838.1:n.200-1084T>G
ENST00000618670.4:c.914T>G ENSP00000483825.1:p.Leu305Arg
ENST00000619941.4:c.710T>G ENSP00000478979.1:p.Leu237Arg
NM_001099856.3:c.914T>G NP_001093326.2:p.Leu305Arg
NM_001099857.2:c.710T>G NP_001093327.1:p.Leu237Arg
NM_001145255.2:c.557T>G NP_001138727.1:p.Leu186Arg
NM_003639.4:c.710T>G NP_003630.1:p.Leu237Arg
XM_005274760.3:c.911T>G XP_005274817.1:p.Leu304Arg
XM_005274761.3:c.914T>G XP_005274818.1:p.Leu305Arg
XM_005274764.3:c.707T>G XP_005274821.1:p.Leu236Arg
XM_011531203.1:c.761T>G XP_011529505.1:p.Leu254Arg
XM_011531204.1:c.710T>G XP_011529506.1:p.Leu237Arg
XM_011531205.1:c.710T>G XP_011529507.1:p.Leu237Arg
NM_001099856.4:c.914T>G NP_001093326.2:p.Leu305Arg
NM_001321396.1:c.710T>G NP_001308325.1:p.Leu237Arg
NM_001321397.1:c.707T>G NP_001308326.1:p.Leu236Arg
NM_001099856.6:c.914T>G NP_001093326.2:p.Leu305Arg
NM_001099857.4:c.710T>G NP_001093327.1:p.Leu237Arg
NM_001145255.4:c.557T>G NP_001138727.1:p.Leu186Arg
NM_001321396.3:c.710T>G NP_001308325.1:p.Leu237Arg
NM_001321397.3:c.707T>G NP_001308326.1:p.Leu236Arg
NM_001377312.1:c.710T>G NP_001364241.1:p.Leu237Arg
NM_001377313.1:c.707T>G NP_001364242.1:p.Leu236Arg
NM_001377314.1:c.554T>G NP_001364243.1:p.Leu185Arg
NM_001377315.1:c.400-1084T>G NP_001364244.1:n.400-1084T>G
NR_165197.1:n.579T>G
NM_001099857.5:c.710T>G MANE Select NP_001093327.1:p.Leu237Arg