Canonical Allele Identifier: CA1481446823
Community Standard Title: NM_003998.4(NFKB1):c.1469C= (p.Thr490=)
Gene: NFKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102596306C= , CM000666.2:g.102596306C= GRCh38
NC_000004.11:g.103517463C= , CM000666.1:g.103517463C= GRCh37
NC_000004.10:g.103736501C= NCBI36
NG_050628.1:g.99978C=

Transcript Alleles

HGVS Amino-acid Change
NM_003998.4:c.1469C= MANE Select NP_003989.2:p.Thr490=
ENST00000226574.9:c.1469C= MANE Select ENSP00000226574.4:p.Thr490=
NM_001165412.1:c.1466C= NP_001158884.1:p.Thr489=
NM_001165412.2:c.1466C= NP_001158884.1:p.Thr489=
NM_001319226.1:c.1466C= NP_001306155.1:p.Thr489=
NM_001319226.2:c.1466C= NP_001306155.1:p.Thr489=
NM_001382625.1:c.1469C= NP_001369554.1:p.Thr490=
NM_001382626.1:c.1469C= NP_001369555.1:p.Thr490=
NM_001382627.1:c.1466C= NP_001369556.1:p.Thr489=
NM_001382628.1:c.1427C= NP_001369557.1:p.Thr476=
NM_003998.3:c.1469C= NP_003989.2:p.Thr490=
ENST00000226574.8:c.1469C= ENSP00000226574.4:p.Thr490=
ENST00000394820.8:c.1466C= ENSP00000378297.4:p.Thr489=
ENST00000504044.1:n.579C=
ENST00000505458.5:c.1466C= ENSP00000424790.1:p.Thr489=
ENST00000507079.6:c.1493C= ENSP00000426147.2:p.Thr498=
ENST00000509165.2:c.1469C= ENSP00000423877.2:p.Thr490=
ENST00000600343.5:c.926C= ENSP00000469340.1:p.Thr309=
ENST00000652569.1:c.1445C=
ENST00000652619.1:c.1490C= ENSP00000499031.1:p.Thr497=
ENST00000697794.1:c.*1110C= ENSP00000513443.1:n.*1110C=
ENST00000697799.1:n.966C=
ENST00000698233.1:n.11C=
XM_011532006.1:c.1490C= XP_011530308.1:p.Thr497=
XM_011532006.2:c.1490C= XP_011530308.1:p.Thr497=
XM_011532007.1:c.1466C= XP_011530309.1:p.Thr489=
XM_011532008.1:c.1310C= XP_011530310.1:p.Thr437=
XM_011532009.1:c.1073C= XP_011530311.1:p.Thr358=
XM_024454067.1:c.1493C= XP_024309835.1:p.Thr498=
XM_024454068.1:c.1469C= XP_024309836.1:p.Thr490=
XM_024454069.1:c.1334C= XP_024309837.1:p.Thr445=