Canonical Allele Identifier: CA389455061

Gene: NFKBIA

Linked Data

• gnomAD v4: 14-35404474-C-A
• MyVariant Identifiers: chr14:g.35873680C>A (hg19) ; chr14:g.35404474C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404474C>A , CM000676.2:g.35404474C>A	GRCh38
NC_000014.8:g.35873680C>A , CM000676.1:g.35873680C>A	GRCh37
NC_000014.7:g.34943431C>A	NCBI36
NG_007571.1:g.5265G>T , LRG_89:g.5265G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.136-37G>T	ENSP00000451281.2:n.136-37G>T
ENST00000557459.2:n.269G>T
ENST00000697957.1:n.276G>T
ENST00000697958.1:n.269G>T
ENST00000697959.1:n.276G>T
ENST00000697960.1:n.256G>T
ENST00000697961.1:c.171G>T	ENSP00000513487.1:p.Gln57His
ENST00000697966.1:n.189G>T
ENST00000216797.10:c.171G>T MANE Select	ENSP00000216797.6:p.Gln57His
ENST00000216797.9:c.171G>T	ENSP00000216797.5:p.Gln57His
ENST00000553342.1:c.136-37G>T	ENSP00000451281.1:n.136-37G>T
ENST00000554001.5:c.171G>T	ENSP00000450537.1:p.Gln57His
ENST00000555629.1:n.276G>T
ENST00000557100.5:n.227G>T
ENST00000557140.5:c.171G>T	ENSP00000451257.1:p.Gln57His
ENST00000557459.1:n.269G>T
NM_020529.2:c.171G>T , LRG_89t1:c.171G>T	NP_065390.1:p.Gln57His
NM_020529.3:c.171G>T MANE Select	NP_065390.1:p.Gln57His