Canonical Allele Identifier: CA11655356
Gene: NFKB1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.102501347C>G
GRCh37 chr4:g.103422504C>G
gnomAD v2:
4:103422504 C / G
gnomAD v3:
4:102501347 C / G
gnomAD v4:
chr4-102501347-C-G
Joint Max Group AF 0.48877263 (AFR)
Genomes Max Group AF 0.48877209 (AFR)
Exomes Max Group AF 0.34378269 (NFE)
dbSNP:
72696119
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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
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