Canonical Allele Identifier: CA961934331

Gene: NFKBIA

Linked Data

• dbSNP Id: rs2052725355
• gnomAD v3: 14-35401540-C-T
• gnomAD v4: 14-35401540-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35401540C>T , CM000676.2:g.35401540C>T	GRCh38
NC_000014.8:g.35870746C>T , CM000676.1:g.35870746C>T	GRCh37
NC_000014.7:g.34940497C>T	NCBI36
NG_007571.1:g.8199G>A , LRG_89:g.8199G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.*473G>A	ENSP00000451281.2:n.*473G>A
ENST00000697954.1:n.1636G>A
ENST00000697955.1:n.1675G>A
ENST00000697956.1:n.1703G>A
ENST00000697957.1:n.1822G>A
ENST00000697958.1:n.2477G>A
ENST00000216797.10:c.*473G>A MANE Select	ENSP00000216797.6:n.*473G>A
ENST00000216797.9:c.*473G>A	ENSP00000216797.5:n.*473G>A
ENST00000554001.5:c.*1069G>A	ENSP00000450537.1:n.*1069G>A
ENST00000557140.5:c.*473G>A	ENSP00000451257.1:n.*473G>A
NM_020529.2:c.*473G>A , LRG_89t1:c.*473G>A	NP_065390.1:n.*473G>A
NM_020529.3:c.*473G>A MANE Select	NP_065390.1:n.*473G>A