Canonical Allele Identifier: CA357958699
Community Standard Title: NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser)
Gene: NFKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102566988T>G , CM000666.2:g.102566988T>G GRCh38
NC_000004.11:g.103488145T>G , CM000666.1:g.103488145T>G GRCh37
NC_000004.10:g.103707181T>G NCBI36
NG_050628.1:g.70660T>G

Transcript Alleles

HGVS Amino-acid Change
NM_003998.4:c.260T>G MANE Select NP_003989.2:p.Ile87Ser
ENST00000226574.9:c.260T>G MANE Select ENSP00000226574.4:p.Ile87Ser
NM_001165412.1:c.257T>G NP_001158884.1:p.Ile86Ser
NM_001165412.2:c.257T>G NP_001158884.1:p.Ile86Ser
NM_001319226.1:c.257T>G NP_001306155.1:p.Ile86Ser
NM_001319226.2:c.257T>G NP_001306155.1:p.Ile86Ser
NM_001382625.1:c.260T>G NP_001369554.1:p.Ile87Ser
NM_001382626.1:c.260T>G NP_001369555.1:p.Ile87Ser
NM_001382627.1:c.257T>G NP_001369556.1:p.Ile86Ser
NM_001382628.1:c.218T>G NP_001369557.1:p.Ile73Ser
NM_003998.3:c.260T>G NP_003989.2:p.Ile87Ser
ENST00000226574.8:c.260T>G ENSP00000226574.4:p.Ile87Ser
ENST00000394820.8:c.257T>G ENSP00000378297.4:p.Ile86Ser
ENST00000502367.1:n.360T>G
ENST00000505458.5:c.257T>G ENSP00000424790.1:p.Ile86Ser
ENST00000507079.5:c.284T>G ENSP00000426147.1:p.Ile95Ser
ENST00000507079.6:c.284T>G ENSP00000426147.2:p.Ile95Ser
ENST00000509165.1:c.260T>G ENSP00000423877.1:p.Ile87Ser
ENST00000509165.2:c.260T>G ENSP00000423877.2:p.Ile87Ser
ENST00000510638.1:n.104T>G
ENST00000513803.5:n.143T>G
ENST00000652569.1:c.174T>G
ENST00000652619.1:c.281T>G ENSP00000499031.1:p.Ile94Ser
ENST00000697793.1:n.358T>G
ENST00000697794.1:c.120T>G ENSP00000513443.1:p.Asp40Glu
ENST00000697797.1:n.454T>G
XM_011532006.1:c.281T>G XP_011530308.1:p.Ile94Ser
XM_011532006.2:c.281T>G XP_011530308.1:p.Ile94Ser
XM_011532007.1:c.257T>G XP_011530309.1:p.Ile86Ser
XM_011532008.1:c.260T>G XP_011530310.1:p.Ile87Ser
XM_011532009.1:c.-137T>G XP_011530311.1:n.-137T>G
XM_024454067.1:c.284T>G XP_024309835.1:p.Ile95Ser
XM_024454068.1:c.260T>G XP_024309836.1:p.Ile87Ser
XM_024454069.1:c.284T>G XP_024309837.1:p.Ile95Ser
XR_244680.3:n.1392-212A>C
XR_939028.1:n.1392-212A>C
XR_939029.1:n.1392-212A>C