Canonical Allele Identifier: CA2580603195

Gene: NFKBIA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35401887C>A , CM000676.2:g.35401887C>A	GRCh38
NC_000014.8:g.35871093C>A , CM000676.1:g.35871093C>A	GRCh37
NC_000014.7:g.34940844C>A	NCBI36
NG_007571.1:g.7852G>T , LRG_89:g.7852G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020529.3:c.*126G>T MANE Select	NP_065390.1:n.*126G>T
ENST00000216797.10:c.*126G>T MANE Select	ENSP00000216797.6:n.*126G>T
NM_020529.2:c.*126G>T , LRG_89t1:c.*126G>T	NP_065390.1:n.*126G>T
ENST00000216797.9:c.*126G>T	ENSP00000216797.5:n.*126G>T
ENST00000553342.2:c.*126G>T	ENSP00000451281.2:n.*126G>T
ENST00000554001.5:c.*722G>T	ENSP00000450537.1:n.*722G>T
ENST00000557140.5:c.*126G>T	ENSP00000451257.1:n.*126G>T
ENST00000557389.1:c.*126G>T	ENSP00000450514.1:n.*126G>T
ENST00000557459.2:n.1908G>T
ENST00000697954.1:n.1289G>T
ENST00000697955.1:n.1328G>T
ENST00000697956.1:n.1356G>T
ENST00000697957.1:n.1475G>T
ENST00000697958.1:n.2130G>T
ENST00000697959.1:n.1808G>T
ENST00000697960.1:n.2224G>T
ENST00000697961.1:c.*495G>T	ENSP00000513487.1:n.*495G>T