Canonical Allele Identifier: CA7155585

Gene: NFKBIA

Linked Data

• ClinVar Variation Id: 841041
• ClinVar RCV Id: RCV001043181
• dbSNP Id: rs371482940
• ExAC: 14:35873672 G / A
• gnomAD v2: 14-35873672-G-A
• gnomAD v3: 14-35404466-G-A
• gnomAD v4: 14-35404466-G-A
• MyVariant Identifiers: chr14:g.35873672G>A (hg19) ; chr14:g.35404466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404466G>A , CM000676.2:g.35404466G>A	GRCh38
NC_000014.8:g.35873672G>A , CM000676.1:g.35873672G>A	GRCh37
NC_000014.7:g.34943423G>A	NCBI36
NG_007571.1:g.5273C>T , LRG_89:g.5273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.136-29C>T	ENSP00000451281.2:n.136-29C>T
ENST00000557459.2:n.277C>T
ENST00000697957.1:n.284C>T
ENST00000697958.1:n.277C>T
ENST00000697959.1:n.284C>T
ENST00000697960.1:n.264C>T
ENST00000697961.1:c.179C>T	ENSP00000513487.1:p.Pro60Leu
ENST00000697966.1:n.197C>T
ENST00000216797.10:c.179C>T MANE Select	ENSP00000216797.6:p.Pro60Leu
ENST00000216797.9:c.179C>T	ENSP00000216797.5:p.Pro60Leu
ENST00000553342.1:c.136-29C>T	ENSP00000451281.1:n.136-29C>T
ENST00000554001.5:c.179C>T	ENSP00000450537.1:p.Pro60Leu
ENST00000555629.1:n.284C>T
ENST00000557100.5:n.235C>T
ENST00000557140.5:c.179C>T	ENSP00000451257.1:p.Pro60Leu
ENST00000557459.1:n.277C>T
NM_020529.2:c.179C>T , LRG_89t1:c.179C>T	NP_065390.1:p.Pro60Leu
NM_020529.3:c.179C>T MANE Select	NP_065390.1:p.Pro60Leu