Canonical Allele Identifier: CA415219670
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564384T>A , CM000685.2:g.154564384T>A GRCh38
NC_000023.10:g.153792599T>A , CM000685.1:g.153792599T>A GRCh37
NC_000023.9:g.153445793T>A NCBI36
NG_009896.1:g.27141T>A , LRG_70:g.27141T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.1147T>A ENSP00000398579.2:p.Phe383Ile
ENST00000422680.6:c.1183T>A ENSP00000390368.3:p.Phe395Ile
ENST00000440286.6:c.1183T>A ENSP00000394934.2:p.Phe395Ile
ENST00000445622.6:c.1183T>A ENSP00000395205.2:p.Phe395Ile
ENST00000615186.5:c.781T>A ENSP00000479144.2:p.Phe261Ile
ENST00000689906.1:c.1030T>A ENSP00000508630.1:p.Phe344Ile
ENST00000692948.1:c.1240T>A ENSP00000508773.1:p.Phe414Ile
ENST00000594239.6:c.1183T>A MANE Select ENSP00000471166.1:p.Phe395Ile
ENST00000594239.5:c.1183T>A ENSP00000471166.1:p.Phe395Ile
ENST00000611071.4:c.1183T>A ENSP00000479662.1:p.Phe395Ile
ENST00000611176.4:c.886T>A ENSP00000478616.1:p.Phe296Ile
ENST00000612051.1:c.*1175T>A ENSP00000480431.1:n.*1175T>A
ENST00000615874.4:c.1159T>A ENSP00000483381.1:p.Phe387Ile
ENST00000617207.4:c.1180T>A ENSP00000484023.1:p.Phe394Ile
ENST00000618670.4:c.1387T>A ENSP00000483825.1:p.Phe463Ile
ENST00000619941.4:c.1162T>A ENSP00000478979.1:p.Phe388Ile
NM_001099856.3:c.1387T>A NP_001093326.2:p.Phe463Ile
NM_001099857.2:c.1183T>A NP_001093327.1:p.Phe395Ile
NM_001145255.2:c.886T>A NP_001138727.1:p.Phe296Ile
NM_003639.4:c.1183T>A NP_003630.1:p.Phe395Ile
XM_005274760.3:c.1384T>A XP_005274817.1:p.Phe462Ile
XM_005274761.3:c.1321+364T>A XP_005274818.1:n.1321+364T>A
XM_005274764.3:c.1180T>A XP_005274821.1:p.Phe394Ile
XM_011531203.1:c.1234T>A XP_011529505.1:p.Phe412Ile
XM_011531204.1:c.1183T>A XP_011529506.1:p.Phe395Ile
XM_011531205.1:c.1183T>A XP_011529507.1:p.Phe395Ile
NM_001099856.4:c.1387T>A NP_001093326.2:p.Phe463Ile
NM_001321396.1:c.1183T>A NP_001308325.1:p.Phe395Ile
NM_001321397.1:c.1180T>A NP_001308326.1:p.Phe394Ile
NM_001099856.6:c.1387T>A NP_001093326.2:p.Phe463Ile
NM_001099857.4:c.1183T>A NP_001093327.1:p.Phe395Ile
NM_001145255.4:c.886T>A NP_001138727.1:p.Phe296Ile
NM_001321396.3:c.1183T>A NP_001308325.1:p.Phe395Ile
NM_001321397.3:c.1180T>A NP_001308326.1:p.Phe394Ile
NM_001377312.1:c.1183T>A NP_001364241.1:p.Phe395Ile
NM_001377313.1:c.1180T>A NP_001364242.1:p.Phe394Ile
NM_001377314.1:c.1027T>A NP_001364243.1:p.Phe343Ile
NM_001377315.1:c.814T>A NP_001364244.1:p.Phe272Ile
NR_165197.1:n.1052T>A
NM_001099857.5:c.1183T>A MANE Select NP_001093327.1:p.Phe395Ile