Canonical Allele Identifier: CA415215208
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154561703G>T , CM000685.2:g.154561703G>T GRCh38
NC_000023.10:g.153789918G>T , CM000685.1:g.153789918G>T GRCh37
NC_000023.9:g.153443112G>T NCBI36
NG_009896.1:g.24460G>T , LRG_70:g.24460G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.651G>T ENSP00000398579.2:p.Gln217His
ENST00000422680.6:c.687G>T ENSP00000390368.3:p.Gln229His
ENST00000440286.6:c.687G>T ENSP00000394934.2:p.Gln229His
ENST00000445622.6:c.687G>T ENSP00000395205.2:p.Gln229His
ENST00000615186.5:c.285G>T ENSP00000479144.2:p.Gln95His
ENST00000686774.1:c.*68G>T ENSP00000510218.1:n.*68G>T
ENST00000687445.1:n.1059G>T
ENST00000689906.1:c.534G>T ENSP00000508630.1:p.Gln178His
ENST00000692948.1:c.744G>T ENSP00000508773.1:p.Gln248His
ENST00000693029.1:n.1062G>T
ENST00000594239.6:c.687G>T MANE Select ENSP00000471166.1:p.Gln229His
ENST00000440286.5:c.687G>T ENSP00000394934.1:p.Gln229His
ENST00000594239.5:c.687G>T ENSP00000471166.1:p.Gln229His
ENST00000611071.4:c.687G>T ENSP00000479662.1:p.Gln229His
ENST00000611176.4:c.534G>T ENSP00000478616.1:p.Gln178His
ENST00000612051.1:c.*679G>T ENSP00000480431.1:n.*679G>T
ENST00000615186.4:c.285G>T ENSP00000479144.1:p.Gln95His
ENST00000615874.4:c.684G>T ENSP00000483381.1:p.Gln228His
ENST00000617207.4:c.684G>T ENSP00000484023.1:p.Gln228His
ENST00000617838.1:n.200-1107G>T
ENST00000618670.4:c.891G>T ENSP00000483825.1:p.Gln297His
ENST00000619941.4:c.687G>T ENSP00000478979.1:p.Gln229His
NM_001099856.3:c.891G>T NP_001093326.2:p.Gln297His
NM_001099857.2:c.687G>T NP_001093327.1:p.Gln229His
NM_001145255.2:c.534G>T NP_001138727.1:p.Gln178His
NM_003639.4:c.687G>T NP_003630.1:p.Gln229His
XM_005274760.3:c.888G>T XP_005274817.1:p.Gln296His
XM_005274761.3:c.891G>T XP_005274818.1:p.Gln297His
XM_005274764.3:c.684G>T XP_005274821.1:p.Gln228His
XM_011531203.1:c.738G>T XP_011529505.1:p.Gln246His
XM_011531204.1:c.687G>T XP_011529506.1:p.Gln229His
XM_011531205.1:c.687G>T XP_011529507.1:p.Gln229His
NM_001099856.4:c.891G>T NP_001093326.2:p.Gln297His
NM_001321396.1:c.687G>T NP_001308325.1:p.Gln229His
NM_001321397.1:c.684G>T NP_001308326.1:p.Gln228His
NM_001099856.6:c.891G>T NP_001093326.2:p.Gln297His
NM_001099857.4:c.687G>T NP_001093327.1:p.Gln229His
NM_001145255.4:c.534G>T NP_001138727.1:p.Gln178His
NM_001321396.3:c.687G>T NP_001308325.1:p.Gln229His
NM_001321397.3:c.684G>T NP_001308326.1:p.Gln228His
NM_001377312.1:c.687G>T NP_001364241.1:p.Gln229His
NM_001377313.1:c.684G>T NP_001364242.1:p.Gln228His
NM_001377314.1:c.531G>T NP_001364243.1:p.Gln177His
NM_001377315.1:c.400-1107G>T NP_001364244.1:n.400-1107G>T
NR_165197.1:n.556G>T
NM_001099857.5:c.687G>T MANE Select NP_001093327.1:p.Gln229His