Canonical Allele Identifier: CA389455031

Gene: NFKBIA

Linked Data

• dbSNP Id: rs2052767420
• gnomAD v3: 14-35404469-A-G
• gnomAD v4: 14-35404469-A-G
• COSMIC: COSM6409259 ; COSM6409260
• MyVariant Identifiers: chr14:g.35873675A>G (hg19) ; chr14:g.35404469A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404469A>G , CM000676.2:g.35404469A>G	GRCh38
NC_000014.8:g.35873675A>G , CM000676.1:g.35873675A>G	GRCh37
NC_000014.7:g.34943426A>G	NCBI36
NG_007571.1:g.5270T>C , LRG_89:g.5270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.136-32T>C	ENSP00000451281.2:n.136-32T>C
ENST00000557459.2:n.274T>C
ENST00000697957.1:n.281T>C
ENST00000697958.1:n.274T>C
ENST00000697959.1:n.281T>C
ENST00000697960.1:n.261T>C
ENST00000697961.1:c.176T>C	ENSP00000513487.1:p.Val59Ala
ENST00000697966.1:n.194T>C
ENST00000216797.10:c.176T>C MANE Select	ENSP00000216797.6:p.Val59Ala
ENST00000216797.9:c.176T>C	ENSP00000216797.5:p.Val59Ala
ENST00000553342.1:c.136-32T>C	ENSP00000451281.1:n.136-32T>C
ENST00000554001.5:c.176T>C	ENSP00000450537.1:p.Val59Ala
ENST00000555629.1:n.281T>C
ENST00000557100.5:n.232T>C
ENST00000557140.5:c.176T>C	ENSP00000451257.1:p.Val59Ala
ENST00000557459.1:n.274T>C
NM_020529.2:c.176T>C , LRG_89t1:c.176T>C	NP_065390.1:p.Val59Ala
NM_020529.3:c.176T>C MANE Select	NP_065390.1:p.Val59Ala