Canonical Allele Identifier: CA10603205

Gene: NFKBIA

Linked Data

• ClinVar Variation Id: 280143
• ClinVar RCV Id: RCV000325290
• dbSNP Id: rs886041411
• MyVariant Identifiers: chr14:g.35873826G>A (hg19) ; chr14:g.35404620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404620G>A , CM000676.2:g.35404620G>A	GRCh38
NC_000014.8:g.35873826G>A , CM000676.1:g.35873826G>A	GRCh37
NC_000014.7:g.34943577G>A	NCBI36
NG_007571.1:g.5119C>T , LRG_89:g.5119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.25C>T	ENSP00000451281.2:p.Gln9Ter
ENST00000557459.2:n.123C>T
ENST00000697957.1:n.130C>T
ENST00000697958.1:n.123C>T
ENST00000697959.1:n.130C>T
ENST00000697960.1:n.110C>T
ENST00000697961.1:c.25C>T	ENSP00000513487.1:p.Gln9Ter
ENST00000697966.1:n.49-6C>T
ENST00000216797.10:c.25C>T MANE Select	ENSP00000216797.6:p.Gln9Ter
ENST00000216797.9:c.25C>T	ENSP00000216797.5:p.Gln9Ter
ENST00000553342.1:c.25C>T	ENSP00000451281.1:p.Gln9Ter
ENST00000554001.5:c.25C>T	ENSP00000450537.1:p.Gln9Ter
ENST00000555629.1:n.130C>T
ENST00000557100.5:n.81C>T
ENST00000557140.5:c.25C>T	ENSP00000451257.1:p.Gln9Ter
ENST00000557459.1:n.123C>T
NM_020529.2:c.25C>T , LRG_89t1:c.25C>T	NP_065390.1:p.Gln9Ter
NM_020529.3:c.25C>T MANE Select	NP_065390.1:p.Gln9Ter