Canonical Allele Identifier: CA3026263
Gene: NFKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102606588G>T , CM000666.2:g.102606588G>T GRCh38
NC_000004.11:g.103527745G>T , CM000666.1:g.103527745G>T GRCh37
NC_000004.10:g.103746783G>T NCBI36
NG_050628.1:g.110260G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000507079.6:c.1869G>T ENSP00000426147.2:p.Leu623Phe
ENST00000509165.2:c.1845G>T ENSP00000423877.2:p.Leu615Phe
ENST00000697794.1:c.*1486G>T ENSP00000513443.1:n.*1486G>T
ENST00000697799.1:n.1342G>T
ENST00000698233.1:n.1574G>T
ENST00000226574.9:c.1845G>T MANE Select ENSP00000226574.4:p.Leu615Phe
ENST00000652569.1:c.1821G>T
ENST00000652619.1:c.*372G>T ENSP00000499031.1:n.*372G>T
ENST00000226574.8:c.1845G>T ENSP00000226574.4:p.Leu615Phe
ENST00000394820.8:c.1842G>T ENSP00000378297.4:p.Leu614Phe
ENST00000505458.5:c.1842G>T ENSP00000424790.1:p.Leu614Phe
ENST00000600343.5:c.1302G>T ENSP00000469340.1:p.Leu434Phe
NM_001165412.1:c.1842G>T NP_001158884.1:p.Leu614Phe
NM_003998.3:c.1845G>T NP_003989.2:p.Leu615Phe
XM_011532006.1:c.1866G>T XP_011530308.1:p.Leu622Phe
XM_011532007.1:c.1842G>T XP_011530309.1:p.Leu614Phe
XM_011532008.1:c.1686G>T XP_011530310.1:p.Leu562Phe
XM_011532009.1:c.1449G>T XP_011530311.1:p.Leu483Phe
XR_939025.1:n.2385-3654C>A
XR_939026.1:n.2385-3654C>A
XR_939027.1:n.2385-3654C>A
NM_001319226.1:c.1842G>T NP_001306155.1:p.Leu614Phe
XM_011532006.2:c.1866G>T XP_011530308.1:p.Leu622Phe
XM_024454067.1:c.1869G>T XP_024309835.1:p.Leu623Phe
XM_024454068.1:c.1845G>T XP_024309836.1:p.Leu615Phe
XM_024454069.1:c.1710G>T XP_024309837.1:p.Leu570Phe
XR_001741780.1:n.2385-3654C>A
XR_001741781.2:n.1554-3654C>A
XR_939025.3:n.2385-3654C>A
XR_939026.3:n.2385-3654C>A
NM_003998.4:c.1845G>T MANE Select NP_003989.2:p.Leu615Phe
NM_001165412.2:c.1842G>T NP_001158884.1:p.Leu614Phe
NM_001319226.2:c.1842G>T NP_001306155.1:p.Leu614Phe
NM_001382625.1:c.1845G>T NP_001369554.1:p.Leu615Phe
NM_001382626.1:c.1845G>T NP_001369555.1:p.Leu615Phe
NM_001382627.1:c.1842G>T NP_001369556.1:p.Leu614Phe
NM_001382628.1:c.1803G>T NP_001369557.1:p.Leu601Phe