Canonical Allele Identifier: CA7155583

Gene: NFKBIA

Linked Data

• ClinVar Variation Id: 2965837
• ClinVar RCV Id: RCV003825987
• dbSNP Id: rs771568277
• ExAC: 14:35873667 C / T
• gnomAD v2: 14-35873667-C-T
• gnomAD v3: 14-35404461-C-T
• gnomAD v4: 14-35404461-C-T
• MyVariant Identifiers: chr14:g.35873667C>T (hg19) ; chr14:g.35404461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404461C>T , CM000676.2:g.35404461C>T	GRCh38
NC_000014.8:g.35873667C>T , CM000676.1:g.35873667C>T	GRCh37
NC_000014.7:g.34943418C>T	NCBI36
NG_007571.1:g.5278G>A , LRG_89:g.5278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.136-24G>A	ENSP00000451281.2:n.136-24G>A
ENST00000557459.2:n.282G>A
ENST00000697957.1:n.289G>A
ENST00000697958.1:n.282G>A
ENST00000697959.1:n.289G>A
ENST00000697960.1:n.269G>A
ENST00000697961.1:c.184G>A	ENSP00000513487.1:p.Gly62Ser
ENST00000697966.1:n.202G>A
ENST00000216797.10:c.184G>A MANE Select	ENSP00000216797.6:p.Gly62Ser
ENST00000216797.9:c.184G>A	ENSP00000216797.5:p.Gly62Ser
ENST00000553342.1:c.136-24G>A	ENSP00000451281.1:n.136-24G>A
ENST00000554001.5:c.184G>A	ENSP00000450537.1:p.Gly62Ser
ENST00000555629.1:n.289G>A
ENST00000557100.5:n.240G>A
ENST00000557140.5:c.184G>A	ENSP00000451257.1:p.Gly62Ser
ENST00000557459.1:n.282G>A
NM_020529.2:c.184G>A , LRG_89t1:c.184G>A	NP_065390.1:p.Gly62Ser
NM_020529.3:c.184G>A MANE Select	NP_065390.1:p.Gly62Ser