Canonical Allele Identifier: CA2602694473

Gene: NFKB1

Linked Data

• dbSNP Id: rs2149088185
• gnomAD v3: 4-102501459-G-A
• gnomAD v4: 4-102501459-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501459G>A , CM000666.2:g.102501459G>A	GRCh38
NC_000004.11:g.103422616G>A , CM000666.1:g.103422616G>A	GRCh37
NC_000004.10:g.103641648G>A	NCBI36
NG_050628.1:g.5131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507079.6:c.-383G>A	ENSP00000426147.2:n.-383G>A
ENST00000226574.9:c.-337G>A MANE Select	ENSP00000226574.4:n.-337G>A
ENST00000652619.1:c.-383G>A	ENSP00000499031.1:n.-383G>A
ENST00000226574.8:c.-337G>A	ENSP00000226574.4:n.-337G>A
ENST00000394820.8:c.-337G>A	ENSP00000378297.4:n.-337G>A
ENST00000511926.5:c.-383G>A	ENSP00000420904.1:n.-383G>A
NM_001165412.1:c.-337G>A	NP_001158884.1:n.-337G>A
NM_003998.3:c.-337G>A	NP_003989.2:n.-337G>A
XM_011532467.1:c.433C>T	XP_011530769.1:p.Arg145Trp
NR_136202.1:n.48+980C>T
XM_024454067.1:c.-383G>A	XP_024309835.1:n.-383G>A
XM_024454069.1:c.-383G>A	XP_024309837.1:n.-383G>A
NM_003998.4:c.-337G>A MANE Select	NP_003989.2:n.-337G>A
NM_001165412.2:c.-337G>A	NP_001158884.1:n.-337G>A
NM_001382626.1:c.-407G>A	NP_001369555.1:n.-407G>A
NM_001382627.1:c.-407G>A	NP_001369556.1:n.-407G>A
NM_001382628.1:c.-330G>A	NP_001369557.1:n.-330G>A