Canonical Allele Identifier: CA357958706
Community Standard Title: NM_003998.4(NFKB1):c.263G>T (p.Cys88Phe)
Gene: NFKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102566991G>T , CM000666.2:g.102566991G>T GRCh38
NC_000004.11:g.103488148G>T , CM000666.1:g.103488148G>T GRCh37
NC_000004.10:g.103707184G>T NCBI36
NG_050628.1:g.70663G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003998.4:c.263G>T MANE Select NP_003989.2:p.Cys88Phe
ENST00000226574.9:c.263G>T MANE Select ENSP00000226574.4:p.Cys88Phe
NM_001165412.1:c.260G>T NP_001158884.1:p.Cys87Phe
NM_001165412.2:c.260G>T NP_001158884.1:p.Cys87Phe
NM_001319226.1:c.260G>T NP_001306155.1:p.Cys87Phe
NM_001319226.2:c.260G>T NP_001306155.1:p.Cys87Phe
NM_001382625.1:c.263G>T NP_001369554.1:p.Cys88Phe
NM_001382626.1:c.263G>T NP_001369555.1:p.Cys88Phe
NM_001382627.1:c.260G>T NP_001369556.1:p.Cys87Phe
NM_001382628.1:c.221G>T NP_001369557.1:p.Cys74Phe
NM_003998.3:c.263G>T NP_003989.2:p.Cys88Phe
ENST00000226574.8:c.263G>T ENSP00000226574.4:p.Cys88Phe
ENST00000394820.8:c.260G>T ENSP00000378297.4:p.Cys87Phe
ENST00000502367.1:n.363G>T
ENST00000505458.5:c.260G>T ENSP00000424790.1:p.Cys87Phe
ENST00000507079.5:c.287G>T ENSP00000426147.1:p.Cys96Phe
ENST00000507079.6:c.287G>T ENSP00000426147.2:p.Cys96Phe
ENST00000509165.1:c.263G>T ENSP00000423877.1:p.Cys88Phe
ENST00000509165.2:c.263G>T ENSP00000423877.2:p.Cys88Phe
ENST00000510638.1:n.107G>T
ENST00000513803.5:n.146G>T
ENST00000652569.1:c.177G>T
ENST00000652619.1:c.284G>T ENSP00000499031.1:p.Cys95Phe
ENST00000697793.1:n.361G>T
ENST00000697794.1:c.123G>T ENSP00000513443.1:p.Leu41=
ENST00000697797.1:n.457G>T
XM_011532006.1:c.284G>T XP_011530308.1:p.Cys95Phe
XM_011532006.2:c.284G>T XP_011530308.1:p.Cys95Phe
XM_011532007.1:c.260G>T XP_011530309.1:p.Cys87Phe
XM_011532008.1:c.263G>T XP_011530310.1:p.Cys88Phe
XM_011532009.1:c.-134G>T XP_011530311.1:n.-134G>T
XM_024454067.1:c.287G>T XP_024309835.1:p.Cys96Phe
XM_024454068.1:c.263G>T XP_024309836.1:p.Cys88Phe
XM_024454069.1:c.287G>T XP_024309837.1:p.Cys96Phe
XR_244680.3:n.1392-215C>A
XR_939028.1:n.1392-215C>A
XR_939029.1:n.1392-215C>A