Canonical Allele Identifier: CA389451984

Gene: NFKBIA

Linked Data

• ClinVar Variation Id: 2724326
• ClinVar RCV Id: RCV003514100 ; RCV004369189
• dbSNP Id: rs756020078
• gnomAD v3: 14-35402459-G-T
• gnomAD v4: 14-35402459-G-T
• MyVariant Identifiers: chr14:g.35871665G>T (hg19) ; chr14:g.35402459G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35402459G>T , CM000676.2:g.35402459G>T	GRCh38
NC_000014.8:g.35871665G>T , CM000676.1:g.35871665G>T	GRCh37
NC_000014.7:g.34941416G>T	NCBI36
NG_007571.1:g.7280C>A , LRG_89:g.7280C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.769C>A	ENSP00000451281.2:p.Pro257Thr
ENST00000557459.2:n.1336C>A
ENST00000697954.1:n.1050C>A
ENST00000697955.1:n.1089C>A
ENST00000697956.1:n.1117C>A
ENST00000697957.1:n.1236C>A
ENST00000697958.1:n.1558C>A
ENST00000697959.1:n.1236C>A
ENST00000697960.1:n.1652C>A
ENST00000697961.1:c.841C>A	ENSP00000513487.1:p.Pro281Thr
ENST00000697962.1:c.571C>A	ENSP00000513488.1:p.Pro191Thr
ENST00000697965.1:n.45C>A
ENST00000697966.1:n.859C>A
ENST00000216797.10:c.841C>A MANE Select	ENSP00000216797.6:p.Pro281Thr
ENST00000216797.9:c.841C>A	ENSP00000216797.5:p.Pro281Thr
ENST00000554001.5:c.*483C>A	ENSP00000450537.1:n.*483C>A
ENST00000555371.1:n.490C>A
ENST00000557100.5:n.808C>A
ENST00000557140.5:c.712C>A	ENSP00000451257.1:p.Pro238Thr
ENST00000557389.1:c.571C>A	ENSP00000450514.1:p.Pro191Thr
NM_020529.2:c.841C>A , LRG_89t1:c.841C>A	NP_065390.1:p.Pro281Thr
NM_020529.3:c.841C>A MANE Select	NP_065390.1:p.Pro281Thr