Canonical Allele Identifier: CA103129101

Gene: NFKB1

Linked Data

• dbSNP Id: rs537242364
• gnomAD v3: 4-102583177-T-C
• gnomAD v4: 4-102583177-T-C
• MyVariant Identifiers: chr4:g.103504334T>C (hg19) ; chr4:g.102583177T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102583177T>C , CM000666.2:g.102583177T>C	GRCh38
NC_000004.11:g.103504334T>C , CM000666.1:g.103504334T>C	GRCh37
NC_000004.10:g.103723372T>C	NCBI36
NG_050628.1:g.86849T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.951+220T>C	ENSP00000426147.2:n.951+220T>C
ENST00000509165.2:c.927+220T>C	ENSP00000423877.2:n.927+220T>C
ENST00000697794.1:c.*568+220T>C	ENSP00000513443.1:n.*568+220T>C
ENST00000697799.1:n.424+220T>C
ENST00000697800.1:n.138+220T>C
ENST00000226574.9:c.927+220T>C MANE Select	ENSP00000226574.4:n.927+220T>C
ENST00000652569.1:c.903+220T>C
ENST00000652619.1:c.948+220T>C	ENSP00000499031.1:n.948+220T>C
ENST00000226574.8:c.927+220T>C	ENSP00000226574.4:n.927+220T>C
ENST00000394820.8:c.924+220T>C	ENSP00000378297.4:n.924+220T>C
ENST00000505458.5:c.924+220T>C	ENSP00000424790.1:n.924+220T>C
ENST00000508584.1:c.306+220T>C	ENSP00000424815.1:n.306+220T>C
ENST00000600343.5:c.384+220T>C	ENSP00000469340.1:n.384+220T>C
NM_001165412.1:c.924+220T>C	NP_001158884.1:n.924+220T>C
NM_003998.3:c.927+220T>C	NP_003989.2:n.927+220T>C
XM_011532006.1:c.948+220T>C	XP_011530308.1:n.948+220T>C
XM_011532007.1:c.924+220T>C	XP_011530309.1:n.924+220T>C
XM_011532008.1:c.768+220T>C	XP_011530310.1:n.768+220T>C
XM_011532009.1:c.531+220T>C	XP_011530311.1:n.531+220T>C
NM_001319226.1:c.924+220T>C	NP_001306155.1:n.924+220T>C
XM_011532006.2:c.948+220T>C	XP_011530308.1:n.948+220T>C
XM_024454067.1:c.951+220T>C	XP_024309835.1:n.951+220T>C
XM_024454068.1:c.927+220T>C	XP_024309836.1:n.927+220T>C
XM_024454069.1:c.792+220T>C	XP_024309837.1:n.792+220T>C
NM_003998.4:c.927+220T>C MANE Select	NP_003989.2:n.927+220T>C
NM_001165412.2:c.924+220T>C	NP_001158884.1:n.924+220T>C
NM_001319226.2:c.924+220T>C	NP_001306155.1:n.924+220T>C
NM_001382625.1:c.927+220T>C	NP_001369554.1:n.927+220T>C
NM_001382626.1:c.927+220T>C	NP_001369555.1:n.927+220T>C
NM_001382627.1:c.924+220T>C	NP_001369556.1:n.924+220T>C
NM_001382628.1:c.885+220T>C	NP_001369557.1:n.885+220T>C