Canonical Allele Identifier: CA2590990783

Gene: NFKBIA

Linked Data

• dbSNP Id: rs2052726536
• gnomAD v3: 14-35401619-T-G
• gnomAD v4: 14-35401619-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35401619T>G , CM000676.2:g.35401619T>G	GRCh38
NC_000014.8:g.35870825T>G , CM000676.1:g.35870825T>G	GRCh37
NC_000014.7:g.34940576T>G	NCBI36
NG_007571.1:g.8120A>C , LRG_89:g.8120A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.*394A>C	ENSP00000451281.2:n.*394A>C
ENST00000697954.1:n.1557A>C
ENST00000697955.1:n.1596A>C
ENST00000697956.1:n.1624A>C
ENST00000697957.1:n.1743A>C
ENST00000697958.1:n.2398A>C
ENST00000697959.1:n.2076A>C
ENST00000697960.1:n.2492A>C
ENST00000697961.1:c.*763A>C	ENSP00000513487.1:n.*763A>C
ENST00000216797.10:c.*394A>C MANE Select	ENSP00000216797.6:n.*394A>C
ENST00000216797.9:c.*394A>C	ENSP00000216797.5:n.*394A>C
ENST00000554001.5:c.*990A>C	ENSP00000450537.1:n.*990A>C
ENST00000557140.5:c.*394A>C	ENSP00000451257.1:n.*394A>C
ENST00000557389.1:c.*394A>C	ENSP00000450514.1:n.*394A>C
NM_020529.2:c.*394A>C , LRG_89t1:c.*394A>C	NP_065390.1:n.*394A>C
NM_020529.3:c.*394A>C MANE Select	NP_065390.1:n.*394A>C