Canonical Allele Identifier: CA415219251
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564343T>C , CM000685.2:g.154564343T>C GRCh38
NC_000023.10:g.153792558T>C , CM000685.1:g.153792558T>C GRCh37
NC_000023.9:g.153445752T>C NCBI36
NG_009896.1:g.27100T>C , LRG_70:g.27100T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.1106T>C ENSP00000398579.2:p.Leu369Pro
ENST00000422680.6:c.1142T>C ENSP00000390368.3:p.Leu381Pro
ENST00000440286.6:c.1142T>C ENSP00000394934.2:p.Leu381Pro
ENST00000445622.6:c.1142T>C ENSP00000395205.2:p.Leu381Pro
ENST00000615186.5:c.740T>C ENSP00000479144.2:p.Leu247Pro
ENST00000689906.1:c.989T>C ENSP00000508630.1:p.Leu330Pro
ENST00000692948.1:c.1199T>C ENSP00000508773.1:p.Leu400Pro
ENST00000594239.6:c.1142T>C MANE Select ENSP00000471166.1:p.Leu381Pro
ENST00000594239.5:c.1142T>C ENSP00000471166.1:p.Leu381Pro
ENST00000611071.4:c.1142T>C ENSP00000479662.1:p.Leu381Pro
ENST00000611176.4:c.845T>C ENSP00000478616.1:p.Leu282Pro
ENST00000612051.1:c.*1134T>C ENSP00000480431.1:n.*1134T>C
ENST00000615874.4:c.1118T>C ENSP00000483381.1:p.Leu373Pro
ENST00000617207.4:c.1139T>C ENSP00000484023.1:p.Leu380Pro
ENST00000618670.4:c.1346T>C ENSP00000483825.1:p.Leu449Pro
ENST00000619941.4:c.1121T>C ENSP00000478979.1:p.Leu374Pro
NM_001099856.3:c.1346T>C NP_001093326.2:p.Leu449Pro
NM_001099857.2:c.1142T>C NP_001093327.1:p.Leu381Pro
NM_001145255.2:c.845T>C NP_001138727.1:p.Leu282Pro
NM_003639.4:c.1142T>C NP_003630.1:p.Leu381Pro
XM_005274760.3:c.1343T>C XP_005274817.1:p.Leu448Pro
XM_005274761.3:c.1321+323T>C XP_005274818.1:n.1321+323T>C
XM_005274764.3:c.1139T>C XP_005274821.1:p.Leu380Pro
XM_011531203.1:c.1193T>C XP_011529505.1:p.Leu398Pro
XM_011531204.1:c.1142T>C XP_011529506.1:p.Leu381Pro
XM_011531205.1:c.1142T>C XP_011529507.1:p.Leu381Pro
NM_001099856.4:c.1346T>C NP_001093326.2:p.Leu449Pro
NM_001321396.1:c.1142T>C NP_001308325.1:p.Leu381Pro
NM_001321397.1:c.1139T>C NP_001308326.1:p.Leu380Pro
NM_001099856.6:c.1346T>C NP_001093326.2:p.Leu449Pro
NM_001099857.4:c.1142T>C NP_001093327.1:p.Leu381Pro
NM_001145255.4:c.845T>C NP_001138727.1:p.Leu282Pro
NM_001321396.3:c.1142T>C NP_001308325.1:p.Leu381Pro
NM_001321397.3:c.1139T>C NP_001308326.1:p.Leu380Pro
NM_001377312.1:c.1142T>C NP_001364241.1:p.Leu381Pro
NM_001377313.1:c.1139T>C NP_001364242.1:p.Leu380Pro
NM_001377314.1:c.986T>C NP_001364243.1:p.Leu329Pro
NM_001377315.1:c.773T>C NP_001364244.1:p.Leu258Pro
NR_165197.1:n.1011T>C
NM_001099857.5:c.1142T>C MANE Select NP_001093327.1:p.Leu381Pro