Canonical Allele Identifier: CA389454964

Gene: NFKBIA

Linked Data

• dbSNP Id: rs778206898
• gnomAD v2: 14-35873658-G-A
• gnomAD v4: 14-35404452-G-A
• MyVariant Identifiers: chr14:g.35873658G>A (hg19) ; chr14:g.35404452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404452G>A , CM000676.2:g.35404452G>A	GRCh38
NC_000014.8:g.35873658G>A , CM000676.1:g.35873658G>A	GRCh37
NC_000014.7:g.34943409G>A	NCBI36
NG_007571.1:g.5287C>T , LRG_89:g.5287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.136-15C>T	ENSP00000451281.2:n.136-15C>T
ENST00000557459.2:n.291C>T
ENST00000697957.1:n.298C>T
ENST00000697958.1:n.291C>T
ENST00000697959.1:n.298C>T
ENST00000697960.1:n.278C>T
ENST00000697961.1:c.193C>T	ENSP00000513487.1:p.Pro65Ser
ENST00000697966.1:n.211C>T
ENST00000216797.10:c.193C>T MANE Select	ENSP00000216797.6:p.Pro65Ser
ENST00000216797.9:c.193C>T	ENSP00000216797.5:p.Pro65Ser
ENST00000553342.1:c.136-15C>T	ENSP00000451281.1:n.136-15C>T
ENST00000554001.5:c.193C>T	ENSP00000450537.1:p.Pro65Ser
ENST00000555629.1:n.298C>T
ENST00000557100.5:n.249C>T
ENST00000557140.5:c.193C>T	ENSP00000451257.1:p.Pro65Ser
ENST00000557459.1:n.291C>T
NM_020529.2:c.193C>T , LRG_89t1:c.193C>T	NP_065390.1:p.Pro65Ser
NM_020529.3:c.193C>T MANE Select	NP_065390.1:p.Pro65Ser