Canonical Allele Identifier: CA1066141094

Gene: NFKB1

Linked Data

• dbSNP Id: rs1738998797
• gnomAD v3: 4-102501353-G-C
• gnomAD v4: 4-102501353-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501353G>C , CM000666.2:g.102501353G>C	GRCh38
NC_000004.11:g.103422510G>C , CM000666.1:g.103422510G>C	GRCh37
NC_000004.10:g.103641542G>C	NCBI36
NG_050628.1:g.5025G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.-489G>C	ENSP00000426147.2:n.-489G>C
ENST00000226574.8:c.-443G>C	ENSP00000226574.4:n.-443G>C
ENST00000394820.8:c.-443G>C	ENSP00000378297.4:n.-443G>C
NM_001165412.1:c.-443G>C	NP_001158884.1:n.-443G>C
NM_003998.3:c.-443G>C	NP_003989.2:n.-443G>C
XM_011532467.1:c.539C>G	XP_011530769.1:p.Ser180Cys
NR_136202.1:n.48+1086C>G
XM_024454067.1:c.-489G>C	XP_024309835.1:n.-489G>C
XM_024454069.1:c.-489G>C	XP_024309837.1:n.-489G>C