Canonical Allele Identifier: CA11655356

Gene: NFKB1

Linked Data

• dbSNP Id: rs72696119
• gnomAD v2: 4-103422504-C-G
• gnomAD v3: 4-102501347-C-G
• gnomAD v4: 4-102501347-C-G
• MyVariant Identifiers: chr4:g.103422504C>G (hg19) ; chr4:g.102501347C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501347C>G , CM000666.2:g.102501347C>G	GRCh38
NC_000004.11:g.103422504C>G , CM000666.1:g.103422504C>G	GRCh37
NC_000004.10:g.103641536C>G	NCBI36
NG_050628.1:g.5019C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.-495C>G	ENSP00000426147.2:n.-495C>G
ENST00000226574.8:c.-449C>G	ENSP00000226574.4:n.-449C>G
ENST00000394820.8:c.-449C>G	ENSP00000378297.4:n.-449C>G
NM_001165412.1:c.-449C>G	NP_001158884.1:n.-449C>G
NM_003998.3:c.-449C>G	NP_003989.2:n.-449C>G
XM_011532467.1:c.545G>C	XP_011530769.1:p.Cys182Ser
NR_136202.1:n.48+1092G>C
XM_024454067.1:c.-495C>G	XP_024309835.1:n.-495C>G
XM_024454069.1:c.-495C>G	XP_024309837.1:n.-495C>G