Canonical Allele Identifier: CA358854
Gene: NFKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 210056
ClinVar RCV Id: RCV000192693
dbSNP Id: rs869320688

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102579043A>G , CM000666.2:g.102579043A>G GRCh38
NC_000004.11:g.103500200A>G , CM000666.1:g.103500200A>G GRCh37
NC_000004.10:g.103719238A>G NCBI36
NG_050628.1:g.82715A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000507079.6:c.754+4A>G ENSP00000426147.2:n.754+4A>G
ENST00000509165.2:c.730+4A>G ENSP00000423877.2:n.730+4A>G
ENST00000697794.1:c.*371+4A>G ENSP00000513443.1:n.*371+4A>G
ENST00000226574.9:c.730+4A>G MANE Select ENSP00000226574.4:n.730+4A>G
ENST00000652569.1:c.644+4A>G
ENST00000652619.1:c.751+4A>G ENSP00000499031.1:n.751+4A>G
ENST00000226574.8:c.730+4A>G ENSP00000226574.4:n.730+4A>G
ENST00000394820.8:c.727+4A>G ENSP00000378297.4:n.727+4A>G
ENST00000505458.5:c.727+4A>G ENSP00000424790.1:n.727+4A>G
ENST00000508584.1:c.109+4A>G ENSP00000424815.1:n.109+4A>G
ENST00000510638.1:n.574+4A>G
ENST00000600343.5:c.187+4A>G ENSP00000469340.1:n.187+4A>G
NM_001165412.1:c.727+4A>G NP_001158884.1:n.727+4A>G
NM_003998.3:c.730+4A>G NP_003989.2:n.730+4A>G
XM_011532006.1:c.751+4A>G XP_011530308.1:n.751+4A>G
XM_011532007.1:c.727+4A>G XP_011530309.1:n.727+4A>G
XM_011532008.1:c.572-1492A>G XP_011530310.1:n.572-1492A>G
XM_011532009.1:c.334+4A>G XP_011530311.1:n.334+4A>G
NM_001319226.1:c.727+4A>G NP_001306155.1:n.727+4A>G
XM_011532006.2:c.751+4A>G XP_011530308.1:n.751+4A>G
XM_024454067.1:c.754+4A>G XP_024309835.1:n.754+4A>G
XM_024454068.1:c.730+4A>G XP_024309836.1:n.730+4A>G
XM_024454069.1:c.596-1492A>G XP_024309837.1:n.596-1492A>G
NM_003998.4:c.730+4A>G MANE Select NP_003989.2:n.730+4A>G
NM_001165412.2:c.727+4A>G NP_001158884.1:n.727+4A>G
NM_001319226.2:c.727+4A>G NP_001306155.1:n.727+4A>G
NM_001382625.1:c.730+4A>G NP_001369554.1:n.730+4A>G
NM_001382626.1:c.730+4A>G NP_001369555.1:n.730+4A>G
NM_001382627.1:c.727+4A>G NP_001369556.1:n.727+4A>G
NM_001382628.1:c.688+4A>G NP_001369557.1:n.688+4A>G