Canonical Allele Identifier: CA705267988

Gene: NFKBIA

Linked Data

• dbSNP Id: rs1161465194
• gnomAD v3: 14-35401569-C-A
• gnomAD v4: 14-35401569-C-A
• MyVariant Identifiers: chr14:g.35870775C>A (hg19) ; chr14:g.35401569C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35401569C>A , CM000676.2:g.35401569C>A	GRCh38
NC_000014.8:g.35870775C>A , CM000676.1:g.35870775C>A	GRCh37
NC_000014.7:g.34940526C>A	NCBI36
NG_007571.1:g.8170G>T , LRG_89:g.8170G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.*444G>T	ENSP00000451281.2:n.*444G>T
ENST00000697954.1:n.1607G>T
ENST00000697955.1:n.1646G>T
ENST00000697956.1:n.1674G>T
ENST00000697957.1:n.1793G>T
ENST00000697958.1:n.2448G>T
ENST00000697959.1:n.2126G>T
ENST00000697960.1:n.2542G>T
ENST00000697961.1:c.*813G>T	ENSP00000513487.1:n.*813G>T
ENST00000216797.10:c.*444G>T MANE Select	ENSP00000216797.6:n.*444G>T
ENST00000216797.9:c.*444G>T	ENSP00000216797.5:n.*444G>T
ENST00000554001.5:c.*1040G>T	ENSP00000450537.1:n.*1040G>T
ENST00000557140.5:c.*444G>T	ENSP00000451257.1:n.*444G>T
ENST00000557389.1:c.*444G>T	ENSP00000450514.1:n.*444G>T
NM_020529.2:c.*444G>T , LRG_89t1:c.*444G>T	NP_065390.1:n.*444G>T
NM_020529.3:c.*444G>T MANE Select	NP_065390.1:n.*444G>T