Canonical Allele Identifier: CA415219507
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564369G>T , CM000685.2:g.154564369G>T GRCh38
NC_000023.10:g.153792584G>T , CM000685.1:g.153792584G>T GRCh37
NC_000023.9:g.153445778G>T NCBI36
NG_009896.1:g.27126G>T , LRG_70:g.27126G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000413620.6:c.1132G>T ENSP00000398579.2:p.Glu378Ter
ENST00000422680.6:c.1168G>T ENSP00000390368.3:p.Glu390Ter
ENST00000440286.6:c.1168G>T ENSP00000394934.2:p.Glu390Ter
ENST00000445622.6:c.1168G>T ENSP00000395205.2:p.Glu390Ter
ENST00000615186.5:c.766G>T ENSP00000479144.2:p.Glu256Ter
ENST00000689906.1:c.1015G>T ENSP00000508630.1:p.Glu339Ter
ENST00000692948.1:c.1225G>T ENSP00000508773.1:p.Glu409Ter
ENST00000594239.6:c.1168G>T MANE Select ENSP00000471166.1:p.Glu390Ter
ENST00000594239.5:c.1168G>T ENSP00000471166.1:p.Glu390Ter
ENST00000611071.4:c.1168G>T ENSP00000479662.1:p.Glu390Ter
ENST00000611176.4:c.871G>T ENSP00000478616.1:p.Glu291Ter
ENST00000612051.1:c.*1160G>T ENSP00000480431.1:n.*1160G>T
ENST00000615874.4:c.1144G>T ENSP00000483381.1:p.Glu382Ter
ENST00000617207.4:c.1165G>T ENSP00000484023.1:p.Glu389Ter
ENST00000618670.4:c.1372G>T ENSP00000483825.1:p.Glu458Ter
ENST00000619941.4:c.1147G>T ENSP00000478979.1:p.Glu383Ter
NM_001099856.3:c.1372G>T NP_001093326.2:p.Glu458Ter
NM_001099857.2:c.1168G>T NP_001093327.1:p.Glu390Ter
NM_001145255.2:c.871G>T NP_001138727.1:p.Glu291Ter
NM_003639.4:c.1168G>T NP_003630.1:p.Glu390Ter
XM_005274760.3:c.1369G>T XP_005274817.1:p.Glu457Ter
XM_005274761.3:c.1321+349G>T XP_005274818.1:n.1321+349G>T
XM_005274764.3:c.1165G>T XP_005274821.1:p.Glu389Ter
XM_011531203.1:c.1219G>T XP_011529505.1:p.Glu407Ter
XM_011531204.1:c.1168G>T XP_011529506.1:p.Glu390Ter
XM_011531205.1:c.1168G>T XP_011529507.1:p.Glu390Ter
NM_001099856.4:c.1372G>T NP_001093326.2:p.Glu458Ter
NM_001321396.1:c.1168G>T NP_001308325.1:p.Glu390Ter
NM_001321397.1:c.1165G>T NP_001308326.1:p.Glu389Ter
NM_001099856.6:c.1372G>T NP_001093326.2:p.Glu458Ter
NM_001099857.4:c.1168G>T NP_001093327.1:p.Glu390Ter
NM_001145255.4:c.871G>T NP_001138727.1:p.Glu291Ter
NM_001321396.3:c.1168G>T NP_001308325.1:p.Glu390Ter
NM_001321397.3:c.1165G>T NP_001308326.1:p.Glu389Ter
NM_001377312.1:c.1168G>T NP_001364241.1:p.Glu390Ter
NM_001377313.1:c.1165G>T NP_001364242.1:p.Glu389Ter
NM_001377314.1:c.1012G>T NP_001364243.1:p.Glu338Ter
NM_001377315.1:c.799G>T NP_001364244.1:p.Glu267Ter
NR_165197.1:n.1037G>T
NM_001099857.5:c.1168G>T MANE Select NP_001093327.1:p.Glu390Ter