Canonical Allele Identifier: CA485909012

Gene: NFKBIA

Linked Data

• gnomAD v4: 14-35404450-G-T
• MyVariant Identifiers: chr14:g.35873656G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404450G>T , CM000676.2:g.35404450G>T	GRCh38
NC_000014.8:g.35873656G>T , CM000676.1:g.35873656G>T	GRCh37
NC_000014.7:g.34943407G>T	NCBI36
NG_007571.1:g.5289C>A , LRG_89:g.5289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.136-13C>A	ENSP00000451281.2:n.136-13C>A
ENST00000557459.2:n.293C>A
ENST00000697957.1:n.300C>A
ENST00000697958.1:n.293C>A
ENST00000697959.1:n.300C>A
ENST00000697960.1:n.280C>A
ENST00000697961.1:c.195C>A	ENSP00000513487.1:p.Pro65=
ENST00000697966.1:n.213C>A
ENST00000216797.10:c.195C>A MANE Select	ENSP00000216797.6:p.Pro65=
ENST00000216797.9:c.195C>A	ENSP00000216797.5:p.Pro65=
ENST00000553342.1:c.136-13C>A	ENSP00000451281.1:n.136-13C>A
ENST00000554001.5:c.195C>A	ENSP00000450537.1:p.Pro65=
ENST00000555629.1:n.300C>A
ENST00000557100.5:n.251C>A
ENST00000557140.5:c.195C>A	ENSP00000451257.1:p.Pro65=
ENST00000557459.1:n.293C>A
NM_020529.2:c.195C>A , LRG_89t1:c.195C>A	NP_065390.1:p.Pro65=
NM_020529.3:c.195C>A MANE Select	NP_065390.1:p.Pro65=