Canonical Allele Identifier: CA415219169
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564336C>A , CM000685.2:g.154564336C>A GRCh38
NC_000023.10:g.153792551C>A , CM000685.1:g.153792551C>A GRCh37
NC_000023.9:g.153445745C>A NCBI36
NG_009896.1:g.27093C>A , LRG_70:g.27093C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.1099C>A ENSP00000398579.2:p.Leu367Met
ENST00000422680.6:c.1135C>A ENSP00000390368.3:p.Leu379Met
ENST00000440286.6:c.1135C>A ENSP00000394934.2:p.Leu379Met
ENST00000445622.6:c.1135C>A ENSP00000395205.2:p.Leu379Met
ENST00000615186.5:c.733C>A ENSP00000479144.2:p.Leu245Met
ENST00000689906.1:c.982C>A ENSP00000508630.1:p.Leu328Met
ENST00000692948.1:c.1192C>A ENSP00000508773.1:p.Leu398Met
ENST00000594239.6:c.1135C>A MANE Select ENSP00000471166.1:p.Leu379Met
ENST00000594239.5:c.1135C>A ENSP00000471166.1:p.Leu379Met
ENST00000611071.4:c.1135C>A ENSP00000479662.1:p.Leu379Met
ENST00000611176.4:c.838C>A ENSP00000478616.1:p.Leu280Met
ENST00000612051.1:c.*1127C>A ENSP00000480431.1:n.*1127C>A
ENST00000615874.4:c.1111C>A ENSP00000483381.1:p.Leu371Met
ENST00000617207.4:c.1132C>A ENSP00000484023.1:p.Leu378Met
ENST00000618670.4:c.1339C>A ENSP00000483825.1:p.Leu447Met
ENST00000619941.4:c.1114C>A ENSP00000478979.1:p.Leu372Met
NM_001099856.3:c.1339C>A NP_001093326.2:p.Leu447Met
NM_001099857.2:c.1135C>A NP_001093327.1:p.Leu379Met
NM_001145255.2:c.838C>A NP_001138727.1:p.Leu280Met
NM_003639.4:c.1135C>A NP_003630.1:p.Leu379Met
XM_005274760.3:c.1336C>A XP_005274817.1:p.Leu446Met
XM_005274761.3:c.1321+316C>A XP_005274818.1:n.1321+316C>A
XM_005274764.3:c.1132C>A XP_005274821.1:p.Leu378Met
XM_011531203.1:c.1186C>A XP_011529505.1:p.Leu396Met
XM_011531204.1:c.1135C>A XP_011529506.1:p.Leu379Met
XM_011531205.1:c.1135C>A XP_011529507.1:p.Leu379Met
NM_001099856.4:c.1339C>A NP_001093326.2:p.Leu447Met
NM_001321396.1:c.1135C>A NP_001308325.1:p.Leu379Met
NM_001321397.1:c.1132C>A NP_001308326.1:p.Leu378Met
NM_001099856.6:c.1339C>A NP_001093326.2:p.Leu447Met
NM_001099857.4:c.1135C>A NP_001093327.1:p.Leu379Met
NM_001145255.4:c.838C>A NP_001138727.1:p.Leu280Met
NM_001321396.3:c.1135C>A NP_001308325.1:p.Leu379Met
NM_001321397.3:c.1132C>A NP_001308326.1:p.Leu378Met
NM_001377312.1:c.1135C>A NP_001364241.1:p.Leu379Met
NM_001377313.1:c.1132C>A NP_001364242.1:p.Leu378Met
NM_001377314.1:c.979C>A NP_001364243.1:p.Leu327Met
NM_001377315.1:c.766C>A NP_001364244.1:p.Leu256Met
NR_165197.1:n.1004C>A
NM_001099857.5:c.1135C>A MANE Select NP_001093327.1:p.Leu379Met