Canonical Allele Identifier: CA415215337
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154561728T>C , CM000685.2:g.154561728T>C GRCh38
NC_000023.10:g.153789943T>C , CM000685.1:g.153789943T>C GRCh37
NC_000023.9:g.153443137T>C NCBI36
NG_009896.1:g.24485T>C , LRG_70:g.24485T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.676T>C ENSP00000398579.2:p.Phe226Leu
ENST00000422680.6:c.712T>C ENSP00000390368.3:p.Phe238Leu
ENST00000440286.6:c.712T>C ENSP00000394934.2:p.Phe238Leu
ENST00000445622.6:c.712T>C ENSP00000395205.2:p.Phe238Leu
ENST00000615186.5:c.310T>C ENSP00000479144.2:p.Phe104Leu
ENST00000686774.1:c.*93T>C ENSP00000510218.1:n.*93T>C
ENST00000687445.1:n.1084T>C
ENST00000689906.1:c.559T>C ENSP00000508630.1:p.Phe187Leu
ENST00000692948.1:c.769T>C ENSP00000508773.1:p.Phe257Leu
ENST00000693029.1:n.1087T>C
ENST00000594239.6:c.712T>C MANE Select ENSP00000471166.1:p.Phe238Leu
ENST00000440286.5:c.712T>C ENSP00000394934.1:p.Phe238Leu
ENST00000594239.5:c.712T>C ENSP00000471166.1:p.Phe238Leu
ENST00000611071.4:c.712T>C ENSP00000479662.1:p.Phe238Leu
ENST00000611176.4:c.559T>C ENSP00000478616.1:p.Phe187Leu
ENST00000612051.1:c.*704T>C ENSP00000480431.1:n.*704T>C
ENST00000615186.4:c.310T>C ENSP00000479144.1:p.Phe104Leu
ENST00000615874.4:c.709T>C ENSP00000483381.1:p.Phe237Leu
ENST00000617207.4:c.709T>C ENSP00000484023.1:p.Phe237Leu
ENST00000617838.1:n.200-1082T>C
ENST00000618670.4:c.916T>C ENSP00000483825.1:p.Phe306Leu
ENST00000619941.4:c.712T>C ENSP00000478979.1:p.Phe238Leu
NM_001099856.3:c.916T>C NP_001093326.2:p.Phe306Leu
NM_001099857.2:c.712T>C NP_001093327.1:p.Phe238Leu
NM_001145255.2:c.559T>C NP_001138727.1:p.Phe187Leu
NM_003639.4:c.712T>C NP_003630.1:p.Phe238Leu
XM_005274760.3:c.913T>C XP_005274817.1:p.Phe305Leu
XM_005274761.3:c.916T>C XP_005274818.1:p.Phe306Leu
XM_005274764.3:c.709T>C XP_005274821.1:p.Phe237Leu
XM_011531203.1:c.763T>C XP_011529505.1:p.Phe255Leu
XM_011531204.1:c.712T>C XP_011529506.1:p.Phe238Leu
XM_011531205.1:c.712T>C XP_011529507.1:p.Phe238Leu
NM_001099856.4:c.916T>C NP_001093326.2:p.Phe306Leu
NM_001321396.1:c.712T>C NP_001308325.1:p.Phe238Leu
NM_001321397.1:c.709T>C NP_001308326.1:p.Phe237Leu
NM_001099856.6:c.916T>C NP_001093326.2:p.Phe306Leu
NM_001099857.4:c.712T>C NP_001093327.1:p.Phe238Leu
NM_001145255.4:c.559T>C NP_001138727.1:p.Phe187Leu
NM_001321396.3:c.712T>C NP_001308325.1:p.Phe238Leu
NM_001321397.3:c.709T>C NP_001308326.1:p.Phe237Leu
NM_001377312.1:c.712T>C NP_001364241.1:p.Phe238Leu
NM_001377313.1:c.709T>C NP_001364242.1:p.Phe237Leu
NM_001377314.1:c.556T>C NP_001364243.1:p.Phe186Leu
NM_001377315.1:c.400-1082T>C NP_001364244.1:n.400-1082T>C
NR_165197.1:n.581T>C
NM_001099857.5:c.712T>C MANE Select NP_001093327.1:p.Phe238Leu