Canonical Allele Identifier: CA389455060

Gene: NFKBIA

Linked Data

• dbSNP Id: rs1300321511
• gnomAD v4: 14-35404474-C-G
• MyVariant Identifiers: chr14:g.35873680C>G (hg19) ; chr14:g.35404474C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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