Canonical Allele Identifier: CA415220374
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564446G>C , CM000685.2:g.154564446G>C GRCh38
NC_000023.10:g.153792661G>C , CM000685.1:g.153792661G>C GRCh37
NC_000023.9:g.153445855G>C NCBI36
NG_009896.1:g.27203G>C , LRG_70:g.27203G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.1209G>C ENSP00000398579.2:p.Met403Ile
ENST00000422680.6:c.1245G>C ENSP00000390368.3:p.Met415Ile
ENST00000440286.6:c.1245G>C ENSP00000394934.2:p.Met415Ile
ENST00000445622.6:c.1245G>C ENSP00000395205.2:p.Met415Ile
ENST00000615186.5:c.843G>C ENSP00000479144.2:p.Met281Ile
ENST00000689906.1:c.1092G>C ENSP00000508630.1:p.Met364Ile
ENST00000692948.1:c.1302G>C ENSP00000508773.1:p.Met434Ile
ENST00000594239.6:c.1245G>C MANE Select ENSP00000471166.1:p.Met415Ile
ENST00000594239.5:c.1245G>C ENSP00000471166.1:p.Met415Ile
ENST00000611071.4:c.1245G>C ENSP00000479662.1:p.Met415Ile
ENST00000611176.4:c.948G>C ENSP00000478616.1:p.Met316Ile
ENST00000612051.1:c.*1237G>C ENSP00000480431.1:n.*1237G>C
ENST00000615874.4:c.1221G>C ENSP00000483381.1:p.Met407Ile
ENST00000617207.4:c.1242G>C ENSP00000484023.1:p.Met414Ile
ENST00000618670.4:c.1449G>C ENSP00000483825.1:p.Met483Ile
ENST00000619941.4:c.1224G>C ENSP00000478979.1:p.Met408Ile
NM_001099856.3:c.1449G>C NP_001093326.2:p.Met483Ile
NM_001099857.2:c.1245G>C NP_001093327.1:p.Met415Ile
NM_001145255.2:c.948G>C NP_001138727.1:p.Met316Ile
NM_003639.4:c.1245G>C NP_003630.1:p.Met415Ile
XM_005274760.3:c.1446G>C XP_005274817.1:p.Met482Ile
XM_005274761.3:c.1321+426G>C XP_005274818.1:n.1321+426G>C
XM_005274764.3:c.1242G>C XP_005274821.1:p.Met414Ile
XM_011531203.1:c.1296G>C XP_011529505.1:p.Met432Ile
XM_011531204.1:c.1245G>C XP_011529506.1:p.Met415Ile
XM_011531205.1:c.1245G>C XP_011529507.1:p.Met415Ile
NM_001099856.4:c.1449G>C NP_001093326.2:p.Met483Ile
NM_001321396.1:c.1245G>C NP_001308325.1:p.Met415Ile
NM_001321397.1:c.1242G>C NP_001308326.1:p.Met414Ile
NM_001099856.6:c.1449G>C NP_001093326.2:p.Met483Ile
NM_001099857.4:c.1245G>C NP_001093327.1:p.Met415Ile
NM_001145255.4:c.948G>C NP_001138727.1:p.Met316Ile
NM_001321396.3:c.1245G>C NP_001308325.1:p.Met415Ile
NM_001321397.3:c.1242G>C NP_001308326.1:p.Met414Ile
NM_001377312.1:c.1245G>C NP_001364241.1:p.Met415Ile
NM_001377313.1:c.1242G>C NP_001364242.1:p.Met414Ile
NM_001377314.1:c.1089G>C NP_001364243.1:p.Met363Ile
NM_001377315.1:c.876G>C NP_001364244.1:p.Met292Ile
NR_165197.1:n.1114G>C
NM_001099857.5:c.1245G>C MANE Select NP_001093327.1:p.Met415Ile