Canonical Allele Identifier: CA7155579

Gene: NFKBIA

Linked Data

• ClinVar Variation Id: 2899403
• ClinVar RCV Id: RCV003629672
• dbSNP Id: rs552899761
• ExAC: 14:35873659 C / T
• gnomAD v2: 14-35873659-C-T
• gnomAD v3: 14-35404453-C-T
• gnomAD v4: 14-35404453-C-T
• MyVariant Identifiers: chr14:g.35873659C>T (hg19) ; chr14:g.35404453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404453C>T , CM000676.2:g.35404453C>T	GRCh38
NC_000014.8:g.35873659C>T , CM000676.1:g.35873659C>T	GRCh37
NC_000014.7:g.34943410C>T	NCBI36
NG_007571.1:g.5286G>A , LRG_89:g.5286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.136-16G>A	ENSP00000451281.2:n.136-16G>A
ENST00000557459.2:n.290G>A
ENST00000697957.1:n.297G>A
ENST00000697958.1:n.290G>A
ENST00000697959.1:n.297G>A
ENST00000697960.1:n.277G>A
ENST00000697961.1:c.192G>A	ENSP00000513487.1:p.Glu64=
ENST00000697966.1:n.210G>A
ENST00000216797.10:c.192G>A MANE Select	ENSP00000216797.6:p.Glu64=
ENST00000216797.9:c.192G>A	ENSP00000216797.5:p.Glu64=
ENST00000553342.1:c.136-16G>A	ENSP00000451281.1:n.136-16G>A
ENST00000554001.5:c.192G>A	ENSP00000450537.1:p.Glu64=
ENST00000555629.1:n.297G>A
ENST00000557100.5:n.248G>A
ENST00000557140.5:c.192G>A	ENSP00000451257.1:p.Glu64=
ENST00000557459.1:n.290G>A
NM_020529.2:c.192G>A , LRG_89t1:c.192G>A	NP_065390.1:p.Glu64=
NM_020529.3:c.192G>A MANE Select	NP_065390.1:p.Glu64=