Canonical Allele Identifier: CA613804547

Gene: NFKBIA

Linked Data

• dbSNP Id: rs1388471385
• gnomAD v2: 14-35873908-C-T
• gnomAD v3: 14-35404702-C-T
• gnomAD v4: 14-35404702-C-T
• MyVariant Identifiers: chr14:g.35873908C>T (hg19) ; chr14:g.35404702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404702C>T , CM000676.2:g.35404702C>T	GRCh38
NC_000014.8:g.35873908C>T , CM000676.1:g.35873908C>T	GRCh37
NC_000014.7:g.34943659C>T	NCBI36
NG_007571.1:g.5037G>A , LRG_89:g.5037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.-58G>A	ENSP00000451281.2:n.-58G>A
ENST00000557459.2:n.41G>A
ENST00000697957.1:n.48G>A
ENST00000697958.1:n.41G>A
ENST00000697959.1:n.48G>A
ENST00000697960.1:n.28G>A
ENST00000697961.1:c.-58G>A	ENSP00000513487.1:n.-58G>A
ENST00000216797.10:c.-58G>A MANE Select	ENSP00000216797.6:n.-58G>A
ENST00000216797.9:c.-58G>A	ENSP00000216797.5:n.-58G>A
ENST00000554001.5:c.-58G>A	ENSP00000450537.1:n.-58G>A
ENST00000555629.1:n.48G>A
ENST00000557140.5:c.-58G>A	ENSP00000451257.1:n.-58G>A
ENST00000557459.1:n.41G>A
NM_020529.2:c.-58G>A , LRG_89t1:c.-58G>A	NP_065390.1:n.-58G>A
NM_020529.3:c.-58G>A MANE Select	NP_065390.1:n.-58G>A