Canonical Allele Identifier: CA123691

Gene: NFKBIA

Linked Data

• ClinVar Variation Id: 14003
• ClinVar RCV Id: RCV000015040
• dbSNP Id: rs28933100
• MyVariant Identifiers: chr14:g.35873756C>A (hg19) ; chr14:g.35404550C>A (hg38)
• PubMed: PMID:14523047 ; PMID:15337789

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404550C>A , CM000676.2:g.35404550C>A	GRCh38
NC_000014.8:g.35873756C>A , CM000676.1:g.35873756C>A	GRCh37
NC_000014.7:g.34943507C>A	NCBI36
NG_007571.1:g.5189G>T , LRG_89:g.5189G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.95G>T	ENSP00000451281.2:p.Ser32Ile
ENST00000557459.2:n.193G>T
ENST00000697957.1:n.200G>T
ENST00000697958.1:n.193G>T
ENST00000697959.1:n.200G>T
ENST00000697960.1:n.180G>T
ENST00000697961.1:c.95G>T	ENSP00000513487.1:p.Ser32Ile
ENST00000697966.1:n.113G>T
ENST00000216797.10:c.95G>T MANE Select	ENSP00000216797.6:p.Ser32Ile
ENST00000216797.9:c.95G>T	ENSP00000216797.5:p.Ser32Ile
ENST00000553342.1:c.95G>T	ENSP00000451281.1:p.Ser32Ile
ENST00000554001.5:c.95G>T	ENSP00000450537.1:p.Ser32Ile
ENST00000555629.1:n.200G>T
ENST00000557100.5:n.151G>T
ENST00000557140.5:c.95G>T	ENSP00000451257.1:p.Ser32Ile
ENST00000557459.1:n.193G>T
NM_020529.2:c.95G>T , LRG_89t1:c.95G>T	NP_065390.1:p.Ser32Ile
NM_020529.3:c.95G>T MANE Select	NP_065390.1:p.Ser32Ile