Canonical Allele Identifier: CA357960455

Gene: NFKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102582880C>T , CM000666.2:g.102582880C>T	GRCh38
NC_000004.11:g.103504037C>T , CM000666.1:g.103504037C>T	GRCh37
NC_000004.10:g.103723075C>T	NCBI36
NG_050628.1:g.86552C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003998.4:c.850C>T MANE Select	NP_003989.2:p.Arg284Ter
ENST00000226574.9:c.850C>T MANE Select	ENSP00000226574.4:p.Arg284Ter
NM_001165412.1:c.847C>T	NP_001158884.1:p.Arg283Ter
NM_001165412.2:c.847C>T	NP_001158884.1:p.Arg283Ter
NM_001319226.1:c.847C>T	NP_001306155.1:p.Arg283Ter
NM_001319226.2:c.847C>T	NP_001306155.1:p.Arg283Ter
NM_001382625.1:c.850C>T	NP_001369554.1:p.Arg284Ter
NM_001382626.1:c.850C>T	NP_001369555.1:p.Arg284Ter
NM_001382627.1:c.847C>T	NP_001369556.1:p.Arg283Ter
NM_001382628.1:c.808C>T	NP_001369557.1:p.Arg270Ter
NM_003998.3:c.850C>T	NP_003989.2:p.Arg284Ter
ENST00000226574.8:c.850C>T	ENSP00000226574.4:p.Arg284Ter
ENST00000394820.8:c.847C>T	ENSP00000378297.4:p.Arg283Ter
ENST00000505458.5:c.847C>T	ENSP00000424790.1:p.Arg283Ter
ENST00000507079.6:c.874C>T	ENSP00000426147.2:p.Arg292Ter
ENST00000508584.1:c.229C>T	ENSP00000424815.1:p.Arg77Ter
ENST00000509165.2:c.850C>T	ENSP00000423877.2:p.Arg284Ter
ENST00000600343.5:c.307C>T	ENSP00000469340.1:p.Arg103Ter
ENST00000652569.1:c.826C>T
ENST00000652619.1:c.871C>T	ENSP00000499031.1:p.Arg291Ter
ENST00000697794.1:c.*491C>T	ENSP00000513443.1:n.*491C>T
ENST00000697799.1:n.347C>T
ENST00000697800.1:n.61C>T
XM_011532006.1:c.871C>T	XP_011530308.1:p.Arg291Ter
XM_011532006.2:c.871C>T	XP_011530308.1:p.Arg291Ter
XM_011532007.1:c.847C>T	XP_011530309.1:p.Arg283Ter
XM_011532008.1:c.691C>T	XP_011530310.1:p.Arg231Ter
XM_011532009.1:c.454C>T	XP_011530311.1:p.Arg152Ter
XM_024454067.1:c.874C>T	XP_024309835.1:p.Arg292Ter
XM_024454068.1:c.850C>T	XP_024309836.1:p.Arg284Ter
XM_024454069.1:c.715C>T	XP_024309837.1:p.Arg239Ter