Canonical Allele Identifier: CA389452576

Gene: NFKBIA

Linked Data

• ClinVar Variation Id: 1365282
• ClinVar RCV Id: RCV001929752
• dbSNP Id: rs2138831210
• MyVariant Identifiers: chr14:g.35872041G>A (hg19) ; chr14:g.35402835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35402835G>A , CM000676.2:g.35402835G>A	GRCh38
NC_000014.8:g.35872041G>A , CM000676.1:g.35872041G>A	GRCh37
NC_000014.7:g.34941792G>A	NCBI36
NG_007571.1:g.6904C>T , LRG_89:g.6904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.500C>T	ENSP00000451281.2:p.Ser167Phe
ENST00000557459.2:n.960C>T
ENST00000697954.1:n.674C>T
ENST00000697955.1:n.820C>T
ENST00000697956.1:n.741C>T
ENST00000697957.1:n.967C>T
ENST00000697958.1:n.1289C>T
ENST00000697959.1:n.967C>T
ENST00000697960.1:n.1276C>T
ENST00000697961.1:c.572C>T	ENSP00000513487.1:p.Ser191Phe
ENST00000697962.1:c.302C>T	ENSP00000513488.1:p.Ser101Phe
ENST00000697966.1:n.590C>T
ENST00000216797.10:c.572C>T MANE Select	ENSP00000216797.6:p.Ser191Phe
ENST00000216797.9:c.572C>T	ENSP00000216797.5:p.Ser191Phe
ENST00000554001.5:c.*214C>T	ENSP00000450537.1:n.*214C>T
ENST00000555371.1:n.114C>T
ENST00000556664.1:n.306C>T
ENST00000557100.5:n.604-172C>T
ENST00000557140.5:c.572C>T	ENSP00000451257.1:p.Ser191Phe
ENST00000557389.1:c.302C>T	ENSP00000450514.1:p.Ser101Phe
NM_020529.2:c.572C>T , LRG_89t1:c.572C>T	NP_065390.1:p.Ser191Phe
NM_020529.3:c.572C>T MANE Select	NP_065390.1:p.Ser191Phe