Canonical Allele Identifier: CA485909110

Gene: NFKBIA

Linked Data

• ClinVar Variation Id: 1078505
• ClinVar RCV Id: RCV001393446
• dbSNP Id: rs2138834404
• gnomAD v4: 14-35404615-C-T
• MyVariant Identifiers: chr14:g.35873821C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404615C>T , CM000676.2:g.35404615C>T	GRCh38
NC_000014.8:g.35873821C>T , CM000676.1:g.35873821C>T	GRCh37
NC_000014.7:g.34943572C>T	NCBI36
NG_007571.1:g.5124G>A , LRG_89:g.5124G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553342.2:c.30G>A	ENSP00000451281.2:p.Glu10=
ENST00000557459.2:n.128G>A
ENST00000697957.1:n.135G>A
ENST00000697958.1:n.128G>A
ENST00000697959.1:n.135G>A
ENST00000697960.1:n.115G>A
ENST00000697961.1:c.30G>A	ENSP00000513487.1:p.Glu10=
ENST00000697966.1:n.49-1G>A
ENST00000216797.10:c.30G>A MANE Select	ENSP00000216797.6:p.Glu10=
ENST00000216797.9:c.30G>A	ENSP00000216797.5:p.Glu10=
ENST00000553342.1:c.30G>A	ENSP00000451281.1:p.Glu10=
ENST00000554001.5:c.30G>A	ENSP00000450537.1:p.Glu10=
ENST00000555629.1:n.135G>A
ENST00000557100.5:n.86G>A
ENST00000557140.5:c.30G>A	ENSP00000451257.1:p.Glu10=
ENST00000557459.1:n.128G>A
NM_020529.2:c.30G>A , LRG_89t1:c.30G>A	NP_065390.1:p.Glu10=
NM_020529.3:c.30G>A MANE Select	NP_065390.1:p.Glu10=