Canonical Allele Identifier: CA1779369575
Community Standard Title: NM_001556.3(IKBKB):c.814C= (p.Arg272=)
Gene: IKBKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42316223C= , CM000670.2:g.42316223C= GRCh38
NC_000008.10:g.42173741C= , CM000670.1:g.42173741C= GRCh37
NC_000008.9:g.42292898C= NCBI36
NG_041793.1:g.49922C=

Transcript Alleles

HGVS Amino-acid Change
NM_001556.3:c.814C= MANE Select NP_001547.1:p.Arg272=
ENST00000520810.6:c.814C= MANE Select ENSP00000430684.1:p.Arg272=
NM_001190720.2:c.808C= NP_001177649.1:p.Arg270=
NM_001190720.3:c.622C= NP_001177649.2:p.Arg208=
NM_001242778.1:c.637C= NP_001229707.1:p.Arg213=
NM_001242778.2:c.637C= NP_001229707.1:p.Arg213=
NM_001556.2:c.814C= NP_001547.1:p.Arg272=
NR_033818.1:n.1056C=
NR_033818.2:n.1056C=
NR_033819.1:n.1000C=
NR_033819.2:n.1000C=
NR_040009.1:n.1000C=
NR_040009.2:n.1000C=
ENST00000342222.6:c.*375C= ENSP00000339151.2:n.*375C=
ENST00000416505.5:c.637C= ENSP00000404920.2:p.Arg213=
ENST00000416505.7:c.477C=
ENST00000517890.5:c.*572C= ENSP00000428799.1:n.*572C=
ENST00000517917.5:n.700C=
ENST00000518647.5:n.912C=
ENST00000518679.5:c.*95C= ENSP00000430557.1:n.*95C=
ENST00000520201.5:n.818C=
ENST00000520655.5:c.814C= ENSP00000428922.1:p.Arg272=
ENST00000520810.5:c.814C= ENSP00000430684.1:p.Arg272=
ENST00000520835.5:c.808C= ENSP00000430868.1:p.Arg270=
ENST00000520835.7:c.622C= ENSP00000430868.2:p.Arg208=
ENST00000521661.5:c.814C= ENSP00000428186.1:p.Arg272=
ENST00000522147.4:c.106-14984C= ENSP00000428892.1:n.106-14984C=
ENST00000522545.1:n.419C=
ENST00000523105.5:c.*572C= ENSP00000429239.1:n.*572C=
ENST00000523517.5:c.814C= ENSP00000430114.1:p.Arg272=
ENST00000629753.1:c.814C= ENSP00000486961.1:p.Arg272=
ENST00000629753.2:c.*628C= ENSP00000486961.2:n.*628C=
ENST00000648136.2:n.578C=
ENST00000649612.3:c.578C=
ENST00000676525.1:c.416C= ENSP00000503997.1:n.416C=
XM_005273490.1:c.814C= XP_005273547.1:p.Arg272=
XM_005273490.3:c.814C= XP_005273547.1:p.Arg272=
XM_005273491.3:c.637C= XP_005273548.1:p.Arg213=
XM_005273491.5:c.637C= XP_005273548.1:p.Arg213=
XM_005273492.2:c.814C= XP_005273549.1:p.Arg272=
XM_005273492.4:c.814C= XP_005273549.1:p.Arg272=
XM_005273493.2:c.499C= XP_005273550.1:p.Arg167=
XM_005273493.4:c.499C= XP_005273550.1:p.Arg167=
XM_005273494.1:c.814C= XP_005273551.1:p.Arg272=
XM_005273494.3:c.814C= XP_005273551.1:p.Arg272=
XM_005273495.1:c.184C= XP_005273552.1:p.Arg62=
XM_005273495.2:c.184C= XP_005273552.1:p.Arg62=
XM_005273496.2:c.184C= XP_005273553.1:p.Arg62=
XM_005273496.4:c.184C= XP_005273553.1:p.Arg62=
XM_005273498.2:c.184C= XP_005273555.1:p.Arg62=
XM_005273498.4:c.184C= XP_005273555.1:p.Arg62=
XM_011544517.1:c.814C= XP_011542819.1:p.Arg272=
XM_011544517.2:c.814C= XP_011542819.1:p.Arg272=
XM_011544518.1:c.664C= XP_011542820.1:p.Arg222=
XM_011544518.2:c.664C= XP_011542820.1:p.Arg222=
XM_011544519.1:c.637C= XP_011542821.1:p.Arg213=
XM_011544519.2:c.637C= XP_011542821.1:p.Arg213=
XM_011544520.1:c.559C= XP_011542822.1:p.Arg187=
XM_011544520.2:c.559C= XP_011542822.1:p.Arg187=
XM_011544521.1:c.184C= XP_011542823.1:p.Arg62=
XM_011544521.2:c.184C= XP_011542823.1:p.Arg62=
XM_011544522.1:c.-24C= XP_011542824.1:n.-24C=
XM_011544522.2:c.-24C= XP_011542824.1:n.-24C=
XM_017013396.1:c.-24C= XP_016868885.1:n.-24C=
XR_001745530.2:n.998C=
XR_949402.1:n.900C=
XR_949402.3:n.1480C=