Canonical Allele Identifier: CA7155300

Gene: NFKBIA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35402027G>A , CM000676.2:g.35402027G>A	GRCh38
NC_000014.8:g.35871233G>A , CM000676.1:g.35871233G>A	GRCh37
NC_000014.7:g.34940984G>A	NCBI36
NG_007571.1:g.7712C>T , LRG_89:g.7712C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020529.3:c.940C>T MANE Select	NP_065390.1:p.Arg314Cys
ENST00000216797.10:c.940C>T MANE Select	ENSP00000216797.6:p.Arg314Cys
NM_020529.2:c.940C>T , LRG_89t1:c.940C>T	NP_065390.1:p.Arg314Cys
ENST00000216797.9:c.940C>T	ENSP00000216797.5:p.Arg314Cys
ENST00000553342.2:c.868C>T	ENSP00000451281.2:p.Arg290Cys
ENST00000554001.5:c.*582C>T	ENSP00000450537.1:n.*582C>T
ENST00000555371.1:n.589C>T
ENST00000557140.5:c.811C>T	ENSP00000451257.1:p.Arg271Cys
ENST00000557389.1:c.670C>T	ENSP00000450514.1:p.Arg224Cys
ENST00000557459.2:n.1768C>T
ENST00000697954.1:n.1149C>T
ENST00000697955.1:n.1188C>T
ENST00000697956.1:n.1216C>T
ENST00000697957.1:n.1335C>T
ENST00000697958.1:n.1990C>T
ENST00000697959.1:n.1668C>T
ENST00000697960.1:n.2084C>T
ENST00000697961.1:c.*355C>T	ENSP00000513487.1:n.*355C>T
ENST00000697962.1:c.*355C>T	ENSP00000513488.1:n.*355C>T
ENST00000697965.1:n.148C>T