Canonical Allele Identifier: CA7155452

Gene: NFKBIA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35403188G>A , CM000676.2:g.35403188G>A	GRCh38
NC_000014.8:g.35872394G>A , CM000676.1:g.35872394G>A	GRCh37
NC_000014.7:g.34942145G>A	NCBI36
NG_007571.1:g.6551C>T , LRG_89:g.6551C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020529.3:c.509C>T MANE Select	NP_065390.1:p.Pro170Leu
ENST00000216797.10:c.509C>T MANE Select	ENSP00000216797.6:p.Pro170Leu
NM_020529.2:c.509C>T , LRG_89t1:c.509C>T	NP_065390.1:p.Pro170Leu
ENST00000216797.9:c.509C>T	ENSP00000216797.5:p.Pro170Leu
ENST00000553342.2:c.437C>T	ENSP00000451281.2:p.Pro146Leu
ENST00000554001.5:c.*151C>T	ENSP00000450537.1:n.*151C>T
ENST00000555371.1:n.51C>T
ENST00000556664.1:n.243C>T
ENST00000557100.5:n.565C>T
ENST00000557140.5:c.509C>T	ENSP00000451257.1:p.Pro170Leu
ENST00000557389.1:c.239C>T	ENSP00000450514.1:p.Pro80Leu
ENST00000557459.1:n.607C>T
ENST00000557459.2:n.607C>T
ENST00000697954.1:n.321C>T
ENST00000697955.1:n.467C>T
ENST00000697956.1:n.388C>T
ENST00000697957.1:n.614C>T
ENST00000697958.1:n.936C>T
ENST00000697959.1:n.614C>T
ENST00000697960.1:n.923C>T
ENST00000697961.1:c.509C>T	ENSP00000513487.1:p.Pro170Leu
ENST00000697962.1:c.239C>T	ENSP00000513488.1:p.Pro80Leu
ENST00000697966.1:n.527C>T