Canonical Allele Identifier: CA103120481

Gene: NFKB1

Linked Data

• dbSNP Id: rs1030330178
• gnomAD v3: 4-102501351-A-G
• gnomAD v4: 4-102501351-A-G
• MyVariant Identifiers: chr4:g.103422508A>G (hg19) ; chr4:g.102501351A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501351A>G , CM000666.2:g.102501351A>G	GRCh38
NC_000004.11:g.103422508A>G , CM000666.1:g.103422508A>G	GRCh37
NC_000004.10:g.103641540A>G	NCBI36
NG_050628.1:g.5023A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.-491A>G	ENSP00000426147.2:n.-491A>G
ENST00000226574.8:c.-445A>G	ENSP00000226574.4:n.-445A>G
ENST00000394820.8:c.-445A>G	ENSP00000378297.4:n.-445A>G
NM_001165412.1:c.-445A>G	NP_001158884.1:n.-445A>G
NM_003998.3:c.-445A>G	NP_003989.2:n.-445A>G
XM_011532467.1:c.541T>C	XP_011530769.1:p.Phe181Leu
NR_136202.1:n.48+1088T>C
XM_024454067.1:c.-491A>G	XP_024309835.1:n.-491A>G
XM_024454069.1:c.-491A>G	XP_024309837.1:n.-491A>G