Canonical Allele Identifier: CA4732096

Gene: IKBKB

Linked Data

• ClinVar Variation Id: 474792
• ClinVar RCV Id: RCV000532457 ; RCV001091601
• dbSNP Id: rs151057347
• ExAC: 8:42179427 A / C
• gnomAD v2: 8-42179427-A-C
• gnomAD v3: 8-42321909-A-C
• gnomAD v4: 8-42321909-A-C
• MyVariant Identifiers: chr8:g.42179427A>C (hg19) ; chr8:g.42321909A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42321909A>C , CM000670.2:g.42321909A>C	GRCh38
NC_000008.10:g.42179427A>C , CM000670.1:g.42179427A>C	GRCh37
NC_000008.9:g.42298584A>C	NCBI36
NG_041793.1:g.55608A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000416505.7:c.1303A>C
ENST00000520810.6:c.1702A>C MANE Select	ENSP00000430684.1:p.Arg568=
ENST00000520835.7:c.1510A>C	ENSP00000430868.2:p.Arg504=
ENST00000523599.2:n.390A>C
ENST00000629753.2:c.*1516A>C	ENSP00000486961.2:n.*1516A>C
ENST00000648136.2:n.2664A>C
ENST00000649612.3:c.1404A>C
ENST00000676525.1:c.1302A>C	ENSP00000503997.1:n.1302A>C
ENST00000342222.6:c.*1263A>C	ENSP00000339151.2:n.*1263A>C
ENST00000416505.5:c.1525A>C	ENSP00000404920.2:p.Arg509=
ENST00000517890.5:c.*1460A>C	ENSP00000428799.1:n.*1460A>C
ENST00000518679.5:c.*983A>C	ENSP00000430557.1:n.*983A>C
ENST00000519938.5:n.1204A>C
ENST00000520201.5:n.2957A>C
ENST00000520655.5:c.1640A>C	ENSP00000428922.1:p.Lys547Thr
ENST00000520810.5:c.1702A>C	ENSP00000430684.1:p.Arg568=
ENST00000520835.5:c.1696A>C	ENSP00000430868.1:p.Arg566=
ENST00000521661.5:c.1640A>C	ENSP00000428186.1:p.Lys547Thr
ENST00000522147.4:c.106-9298A>C	ENSP00000428892.1:n.106-9298A>C
ENST00000523105.5:c.*1398A>C	ENSP00000429239.1:n.*1398A>C
ENST00000523517.5:c.*521A>C	ENSP00000430114.1:n.*521A>C
ENST00000629753.1:c.1640A>C	ENSP00000486961.1:p.Lys547Thr
NM_001190720.2:c.1696A>C	NP_001177649.1:p.Arg566=
NM_001242778.1:c.1525A>C	NP_001229707.1:p.Arg509=
NM_001556.2:c.1702A>C	NP_001547.1:p.Arg568=
NR_033818.1:n.1944A>C
NR_033819.1:n.1826A>C
NR_040009.1:n.1835A>C
XM_005273490.1:c.1702A>C	XP_005273547.1:p.Arg568=
XM_005273491.3:c.1525A>C	XP_005273548.1:p.Arg509=
XM_005273492.2:c.1702A>C	XP_005273549.1:p.Arg568=
XM_005273493.2:c.1387A>C	XP_005273550.1:p.Arg463=
XM_005273494.1:c.1702A>C	XP_005273551.1:p.Arg568=
XM_005273495.1:c.1072A>C	XP_005273552.1:p.Arg358=
XM_005273496.2:c.1072A>C	XP_005273553.1:p.Arg358=
XM_005273498.2:c.1072A>C	XP_005273555.1:p.Arg358=
XM_011544517.1:c.1702A>C	XP_011542819.1:p.Arg568=
XM_011544518.1:c.1552A>C	XP_011542820.1:p.Arg518=
XM_011544519.1:c.1525A>C	XP_011542821.1:p.Arg509=
XM_011544520.1:c.1447A>C	XP_011542822.1:p.Arg483=
XM_011544521.1:c.1072A>C	XP_011542823.1:p.Arg358=
XM_011544522.1:c.865A>C	XP_011542824.1:p.Arg289=
XR_949402.1:n.1726A>C
NM_001556.3:c.1702A>C MANE Select	NP_001547.1:p.Arg568=
XM_005273490.3:c.1702A>C	XP_005273547.1:p.Arg568=
XM_005273491.5:c.1525A>C	XP_005273548.1:p.Arg509=
XM_005273492.4:c.1702A>C	XP_005273549.1:p.Arg568=
XM_005273493.4:c.1387A>C	XP_005273550.1:p.Arg463=
XM_005273494.3:c.1702A>C	XP_005273551.1:p.Arg568=
XM_005273495.2:c.1072A>C	XP_005273552.1:p.Arg358=
XM_005273496.4:c.1072A>C	XP_005273553.1:p.Arg358=
XM_005273498.4:c.1072A>C	XP_005273555.1:p.Arg358=
XM_011544517.2:c.1702A>C	XP_011542819.1:p.Arg568=
XM_011544518.2:c.1552A>C	XP_011542820.1:p.Arg518=
XM_011544519.2:c.1525A>C	XP_011542821.1:p.Arg509=
XM_011544520.2:c.1447A>C	XP_011542822.1:p.Arg483=
XM_011544521.2:c.1072A>C	XP_011542823.1:p.Arg358=
XM_011544522.2:c.865A>C	XP_011542824.1:p.Arg289=
XM_017013396.1:c.865A>C	XP_016868885.1:p.Arg289=
XR_001745530.2:n.1824A>C
XR_949402.3:n.2306A>C
NM_001242778.2:c.1525A>C	NP_001229707.1:p.Arg509=
NR_033818.2:n.1944A>C
NR_033819.2:n.1826A>C
NR_040009.2:n.1835A>C
NM_001190720.3:c.1510A>C	NP_001177649.2:p.Arg504=