Canonical Allele Identifier: CA1066142827

Gene: NFKB1

Linked Data

• dbSNP Id: rs1739186974
• gnomAD v3: 4-102502963-C-T
• gnomAD v4: 4-102502963-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102502963C>T , CM000666.2:g.102502963C>T	GRCh38
NC_000004.11:g.103424120C>T , CM000666.1:g.103424120C>T	GRCh37
NC_000004.10:g.103643150C>T	NCBI36
NG_050628.1:g.6635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507079.6:c.-54+1175C>T	ENSP00000426147.2:n.-54+1175C>T
ENST00000697793.1:n.178+1175C>T
ENST00000697794.1:c.-8+1175C>T	ENSP00000513443.1:n.-8+1175C>T
ENST00000697795.1:n.46+1175C>T
ENST00000697796.1:n.275+791C>T
ENST00000697797.1:n.196+791C>T
ENST00000226574.9:c.-8+1175C>T MANE Select	ENSP00000226574.4:n.-8+1175C>T
ENST00000652619.1:c.-54+1175C>T	ENSP00000499031.1:n.-54+1175C>T
ENST00000226574.8:c.-8+1175C>T	ENSP00000226574.4:n.-8+1175C>T
ENST00000394820.8:c.-8+1175C>T	ENSP00000378297.4:n.-8+1175C>T
ENST00000505458.5:c.-8+796C>T	ENSP00000424790.1:n.-8+796C>T
ENST00000507079.5:c.-54+1175C>T	ENSP00000426147.1:n.-54+1175C>T
ENST00000511926.5:c.-54+1175C>T	ENSP00000420904.1:n.-54+1175C>T
NM_001165412.1:c.-8+1175C>T	NP_001158884.1:n.-8+1175C>T
NM_003998.3:c.-8+1175C>T	NP_003989.2:n.-8+1175C>T
XM_011532006.1:c.-54+1175C>T	XP_011530308.1:n.-54+1175C>T
XM_011532007.1:c.-8+796C>T	XP_011530309.1:n.-8+796C>T
NM_001319226.1:c.-8+796C>T	NP_001306155.1:n.-8+796C>T
XM_011532006.2:c.-54+1175C>T	XP_011530308.1:n.-54+1175C>T
XM_024454067.1:c.-54+1175C>T	XP_024309835.1:n.-54+1175C>T
XM_024454069.1:c.-54+1175C>T	XP_024309837.1:n.-54+1175C>T
NM_003998.4:c.-8+1175C>T MANE Select	NP_003989.2:n.-8+1175C>T
NM_001165412.2:c.-8+1175C>T	NP_001158884.1:n.-8+1175C>T
NM_001319226.2:c.-8+796C>T	NP_001306155.1:n.-8+796C>T
NM_001382625.1:c.-78+791C>T	NP_001369554.1:n.-78+791C>T
NM_001382626.1:c.-78+1175C>T	NP_001369555.1:n.-78+1175C>T
NM_001382627.1:c.-78+1175C>T	NP_001369556.1:n.-78+1175C>T
NM_001382628.1:c.-1+1175C>T	NP_001369557.1:n.-1+1175C>T