Canonical Allele Identifier: CA389455485

Gene: NFKBIA

Linked Data

• dbSNP Id: rs1269522219
• gnomAD v2: 14-35873828-G-T
• gnomAD v3: 14-35404622-G-T
• gnomAD v4: 14-35404622-G-T
• MyVariant Identifiers: chr14:g.35873828G>T (hg19) ; chr14:g.35404622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404622G>T , CM000676.2:g.35404622G>T	GRCh38
NC_000014.8:g.35873828G>T , CM000676.1:g.35873828G>T	GRCh37
NC_000014.7:g.34943579G>T	NCBI36
NG_007571.1:g.5117C>A , LRG_89:g.5117C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553342.2:c.23C>A	ENSP00000451281.2:p.Pro8His
ENST00000557459.2:n.121C>A
ENST00000697957.1:n.128C>A
ENST00000697958.1:n.121C>A
ENST00000697959.1:n.128C>A
ENST00000697960.1:n.108C>A
ENST00000697961.1:c.23C>A	ENSP00000513487.1:p.Pro8His
ENST00000697966.1:n.49-8C>A
ENST00000216797.10:c.23C>A MANE Select	ENSP00000216797.6:p.Pro8His
ENST00000216797.9:c.23C>A	ENSP00000216797.5:p.Pro8His
ENST00000553342.1:c.23C>A	ENSP00000451281.1:p.Pro8His
ENST00000554001.5:c.23C>A	ENSP00000450537.1:p.Pro8His
ENST00000555629.1:n.128C>A
ENST00000557100.5:n.79C>A
ENST00000557140.5:c.23C>A	ENSP00000451257.1:p.Pro8His
ENST00000557459.1:n.121C>A
NM_020529.2:c.23C>A , LRG_89t1:c.23C>A	NP_065390.1:p.Pro8His
NM_020529.3:c.23C>A MANE Select	NP_065390.1:p.Pro8His