Canonical Allele Identifier: CA1066130244

Gene: NFKB1

Linked Data

• dbSNP Id: rs1725443060
• gnomAD v3: 4-102583099-C-G
• gnomAD v4: 4-102583099-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102583099C>G , CM000666.2:g.102583099C>G	GRCh38
NC_000004.11:g.103504256C>G , CM000666.1:g.103504256C>G	GRCh37
NC_000004.10:g.103723294C>G	NCBI36
NG_050628.1:g.86771C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.951+142C>G	ENSP00000426147.2:n.951+142C>G
ENST00000509165.2:c.927+142C>G	ENSP00000423877.2:n.927+142C>G
ENST00000697794.1:c.*568+142C>G	ENSP00000513443.1:n.*568+142C>G
ENST00000697799.1:n.424+142C>G
ENST00000697800.1:n.138+142C>G
ENST00000226574.9:c.927+142C>G MANE Select	ENSP00000226574.4:n.927+142C>G
ENST00000652569.1:c.903+142C>G
ENST00000652619.1:c.948+142C>G	ENSP00000499031.1:n.948+142C>G
ENST00000226574.8:c.927+142C>G	ENSP00000226574.4:n.927+142C>G
ENST00000394820.8:c.924+142C>G	ENSP00000378297.4:n.924+142C>G
ENST00000505458.5:c.924+142C>G	ENSP00000424790.1:n.924+142C>G
ENST00000508584.1:c.306+142C>G	ENSP00000424815.1:n.306+142C>G
ENST00000600343.5:c.384+142C>G	ENSP00000469340.1:n.384+142C>G
NM_001165412.1:c.924+142C>G	NP_001158884.1:n.924+142C>G
NM_003998.3:c.927+142C>G	NP_003989.2:n.927+142C>G
XM_011532006.1:c.948+142C>G	XP_011530308.1:n.948+142C>G
XM_011532007.1:c.924+142C>G	XP_011530309.1:n.924+142C>G
XM_011532008.1:c.768+142C>G	XP_011530310.1:n.768+142C>G
XM_011532009.1:c.531+142C>G	XP_011530311.1:n.531+142C>G
NM_001319226.1:c.924+142C>G	NP_001306155.1:n.924+142C>G
XM_011532006.2:c.948+142C>G	XP_011530308.1:n.948+142C>G
XM_024454067.1:c.951+142C>G	XP_024309835.1:n.951+142C>G
XM_024454068.1:c.927+142C>G	XP_024309836.1:n.927+142C>G
XM_024454069.1:c.792+142C>G	XP_024309837.1:n.792+142C>G
NM_003998.4:c.927+142C>G MANE Select	NP_003989.2:n.927+142C>G
NM_001165412.2:c.924+142C>G	NP_001158884.1:n.924+142C>G
NM_001319226.2:c.924+142C>G	NP_001306155.1:n.924+142C>G
NM_001382625.1:c.927+142C>G	NP_001369554.1:n.927+142C>G
NM_001382626.1:c.927+142C>G	NP_001369555.1:n.927+142C>G
NM_001382627.1:c.924+142C>G	NP_001369556.1:n.924+142C>G
NM_001382628.1:c.885+142C>G	NP_001369557.1:n.885+142C>G