Canonical Allele Identifier: CA961934351

Gene: NFKBIA

Linked Data

• dbSNP Id: rs913256495
• gnomAD v3: 14-35401621-G-C
• gnomAD v4: 14-35401621-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35401621G>C , CM000676.2:g.35401621G>C	GRCh38
NC_000014.8:g.35870827G>C , CM000676.1:g.35870827G>C	GRCh37
NC_000014.7:g.34940578G>C	NCBI36
NG_007571.1:g.8118C>G , LRG_89:g.8118C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.*392C>G	ENSP00000451281.2:n.*392C>G
ENST00000697954.1:n.1555C>G
ENST00000697955.1:n.1594C>G
ENST00000697956.1:n.1622C>G
ENST00000697957.1:n.1741C>G
ENST00000697958.1:n.2396C>G
ENST00000697959.1:n.2074C>G
ENST00000697960.1:n.2490C>G
ENST00000697961.1:c.*761C>G	ENSP00000513487.1:n.*761C>G
ENST00000216797.10:c.*392C>G MANE Select	ENSP00000216797.6:n.*392C>G
ENST00000216797.9:c.*392C>G	ENSP00000216797.5:n.*392C>G
ENST00000554001.5:c.*988C>G	ENSP00000450537.1:n.*988C>G
ENST00000557140.5:c.*392C>G	ENSP00000451257.1:n.*392C>G
ENST00000557389.1:c.*392C>G	ENSP00000450514.1:n.*392C>G
NM_020529.2:c.*392C>G , LRG_89t1:c.*392C>G	NP_065390.1:n.*392C>G
NM_020529.3:c.*392C>G MANE Select	NP_065390.1:n.*392C>G