Canonical Allele Identifier: CA357958768
Community Standard Title: NM_003998.4(NFKB1):c.293T>A (p.Val98Asp)
Gene: NFKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102567021T>A , CM000666.2:g.102567021T>A GRCh38
NC_000004.11:g.103488178T>A , CM000666.1:g.103488178T>A GRCh37
NC_000004.10:g.103707214T>A NCBI36
NG_050628.1:g.70693T>A

Transcript Alleles

HGVS Amino-acid Change
NM_003998.4:c.293T>A MANE Select NP_003989.2:p.Val98Asp
ENST00000226574.9:c.293T>A MANE Select ENSP00000226574.4:p.Val98Asp
NM_001165412.1:c.290T>A NP_001158884.1:p.Val97Asp
NM_001165412.2:c.290T>A NP_001158884.1:p.Val97Asp
NM_001319226.1:c.290T>A NP_001306155.1:p.Val97Asp
NM_001319226.2:c.290T>A NP_001306155.1:p.Val97Asp
NM_001382625.1:c.293T>A NP_001369554.1:p.Val98Asp
NM_001382626.1:c.293T>A NP_001369555.1:p.Val98Asp
NM_001382627.1:c.290T>A NP_001369556.1:p.Val97Asp
NM_001382628.1:c.251T>A NP_001369557.1:p.Val84Asp
NM_003998.3:c.293T>A NP_003989.2:p.Val98Asp
ENST00000226574.8:c.293T>A ENSP00000226574.4:p.Val98Asp
ENST00000394820.8:c.290T>A ENSP00000378297.4:p.Val97Asp
ENST00000502367.1:n.393T>A
ENST00000505458.5:c.290T>A ENSP00000424790.1:p.Val97Asp
ENST00000507079.5:c.317T>A ENSP00000426147.1:p.Val106Asp
ENST00000507079.6:c.317T>A ENSP00000426147.2:p.Val106Asp
ENST00000509165.1:c.293T>A ENSP00000423877.1:p.Val98Asp
ENST00000509165.2:c.293T>A ENSP00000423877.2:p.Val98Asp
ENST00000510638.1:n.137T>A
ENST00000513803.5:n.176T>A
ENST00000652569.1:c.207T>A
ENST00000652619.1:c.314T>A ENSP00000499031.1:p.Val105Asp
ENST00000697793.1:n.391T>A
ENST00000697794.1:c.153T>A ENSP00000513443.1:p.Cys51Ter
ENST00000697797.1:n.487T>A
XM_011532006.1:c.314T>A XP_011530308.1:p.Val105Asp
XM_011532006.2:c.314T>A XP_011530308.1:p.Val105Asp
XM_011532007.1:c.290T>A XP_011530309.1:p.Val97Asp
XM_011532008.1:c.293T>A XP_011530310.1:p.Val98Asp
XM_011532009.1:c.-104T>A XP_011530311.1:n.-104T>A
XM_024454067.1:c.317T>A XP_024309835.1:p.Val106Asp
XM_024454068.1:c.293T>A XP_024309836.1:p.Val98Asp
XM_024454069.1:c.317T>A XP_024309837.1:p.Val106Asp
XR_244680.3:n.1392-245A>T
XR_939028.1:n.1392-245A>T
XR_939029.1:n.1392-245A>T