Canonical Allele Identifier: CA389455345

Gene: NFKBIA

Linked Data

• ClinVar Variation Id: 870854
• ClinVar RCV Id: RCV001090524 ; RCV003629146
• dbSNP Id: rs754412949
• gnomAD v4: 14-35404559-C-T
• MyVariant Identifiers: chr14:g.35873765C>T (hg19) ; chr14:g.35404559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404559C>T , CM000676.2:g.35404559C>T	GRCh38
NC_000014.8:g.35873765C>T , CM000676.1:g.35873765C>T	GRCh37
NC_000014.7:g.34943516C>T	NCBI36
NG_007571.1:g.5180G>A , LRG_89:g.5180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.86G>A	ENSP00000451281.2:p.Arg29His
ENST00000557459.2:n.184G>A
ENST00000697957.1:n.191G>A
ENST00000697958.1:n.184G>A
ENST00000697959.1:n.191G>A
ENST00000697960.1:n.171G>A
ENST00000697961.1:c.86G>A	ENSP00000513487.1:p.Arg29His
ENST00000697966.1:n.104G>A
ENST00000216797.10:c.86G>A MANE Select	ENSP00000216797.6:p.Arg29His
ENST00000216797.9:c.86G>A	ENSP00000216797.5:p.Arg29His
ENST00000553342.1:c.86G>A	ENSP00000451281.1:p.Arg29His
ENST00000554001.5:c.86G>A	ENSP00000450537.1:p.Arg29His
ENST00000555629.1:n.191G>A
ENST00000557100.5:n.142G>A
ENST00000557140.5:c.86G>A	ENSP00000451257.1:p.Arg29His
ENST00000557459.1:n.184G>A
NM_020529.2:c.86G>A , LRG_89t1:c.86G>A	NP_065390.1:p.Arg29His
NM_020529.3:c.86G>A MANE Select	NP_065390.1:p.Arg29His