Canonical Allele Identifier: CA102686858

Gene: NFKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102607171C>T , CM000666.2:g.102607171C>T	GRCh38
NC_000004.11:g.103528328C>T , CM000666.1:g.103528328C>T	GRCh37
NC_000004.10:g.103747366C>T	NCBI36
NG_050628.1:g.110843C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507079.6:c.2000C>T	ENSP00000426147.2:p.Ala667Val
ENST00000509165.2:c.1976C>T	ENSP00000423877.2:p.Ala659Val
ENST00000697794.1:c.*1617C>T	ENSP00000513443.1:n.*1617C>T
ENST00000697799.1:n.1473C>T
ENST00000697801.1:n.177C>T
ENST00000698233.1:n.1705C>T
ENST00000226574.9:c.1976C>T MANE Select	ENSP00000226574.4:p.Ala659Val
ENST00000652569.1:c.1952C>T
ENST00000652619.1:c.*503C>T	ENSP00000499031.1:n.*503C>T
ENST00000226574.8:c.1976C>T	ENSP00000226574.4:p.Ala659Val
ENST00000394820.8:c.1973C>T	ENSP00000378297.4:p.Ala658Val
ENST00000505458.5:c.1973C>T	ENSP00000424790.1:p.Ala658Val
ENST00000600343.5:c.1433C>T	ENSP00000469340.1:p.Ala478Val
NM_001165412.1:c.1973C>T	NP_001158884.1:p.Ala658Val
NM_003998.3:c.1976C>T	NP_003989.2:p.Ala659Val
XM_011532006.1:c.1997C>T	XP_011530308.1:p.Ala666Val
XM_011532007.1:c.1973C>T	XP_011530309.1:p.Ala658Val
XM_011532008.1:c.1817C>T	XP_011530310.1:p.Ala606Val
XM_011532009.1:c.1580C>T	XP_011530311.1:p.Ala527Val
XR_939025.1:n.2385-4237G>A
XR_939026.1:n.2385-4237G>A
XR_939027.1:n.2385-4237G>A
NM_001319226.1:c.1973C>T	NP_001306155.1:p.Ala658Val
XM_011532006.2:c.1997C>T	XP_011530308.1:p.Ala666Val
XM_024454067.1:c.2000C>T	XP_024309835.1:p.Ala667Val
XM_024454068.1:c.1976C>T	XP_024309836.1:p.Ala659Val
XM_024454069.1:c.1841C>T	XP_024309837.1:p.Ala614Val
XR_001741780.1:n.2385-4237G>A
XR_001741781.2:n.1554-4237G>A
XR_939025.3:n.2385-4237G>A
XR_939026.3:n.2385-4237G>A
NM_003998.4:c.1976C>T MANE Select	NP_003989.2:p.Ala659Val
NM_001165412.2:c.1973C>T	NP_001158884.1:p.Ala658Val
NM_001319226.2:c.1973C>T	NP_001306155.1:p.Ala658Val
NM_001382625.1:c.1976C>T	NP_001369554.1:p.Ala659Val
NM_001382626.1:c.1976C>T	NP_001369555.1:p.Ala659Val
NM_001382627.1:c.1973C>T	NP_001369556.1:p.Ala658Val
NM_001382628.1:c.1934C>T	NP_001369557.1:p.Ala645Val