Canonical Allele Identifier: CA784580308

Gene: NFKB1

Linked Data

• dbSNP Id: rs1199849238
• gnomAD v3: 4-102501359-G-T
• gnomAD v4: 4-102501359-G-T
• MyVariant Identifiers: chr4:g.103422516G>T (hg19) ; chr4:g.102501359G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501359G>T , CM000666.2:g.102501359G>T	GRCh38
NC_000004.11:g.103422516G>T , CM000666.1:g.103422516G>T	GRCh37
NC_000004.10:g.103641548G>T	NCBI36
NG_050628.1:g.5031G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.-483G>T	ENSP00000426147.2:n.-483G>T
ENST00000226574.9:c.-437G>T MANE Select	ENSP00000226574.4:n.-437G>T
ENST00000226574.8:c.-437G>T	ENSP00000226574.4:n.-437G>T
ENST00000394820.8:c.-437G>T	ENSP00000378297.4:n.-437G>T
NM_001165412.1:c.-437G>T	NP_001158884.1:n.-437G>T
NM_003998.3:c.-437G>T	NP_003989.2:n.-437G>T
XM_011532467.1:c.533C>A	XP_011530769.1:p.Ser178Tyr
NR_136202.1:n.48+1080C>A
XM_024454067.1:c.-483G>T	XP_024309835.1:n.-483G>T
XM_024454069.1:c.-483G>T	XP_024309837.1:n.-483G>T
NM_003998.4:c.-437G>T MANE Select	NP_003989.2:n.-437G>T
NM_001165412.2:c.-437G>T	NP_001158884.1:n.-437G>T
NM_001382626.1:c.-507G>T	NP_001369555.1:n.-507G>T
NM_001382627.1:c.-507G>T	NP_001369556.1:n.-507G>T
NM_001382628.1:c.-430G>T	NP_001369557.1:n.-430G>T