Canonical Allele Identifier: CA3833187

Gene: NFKBIE POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44265087C>A , CM000668.2:g.44265087C>A	GRCh38
NC_000006.11:g.44232824C>A , CM000668.1:g.44232824C>A	GRCh37
NC_000006.10:g.44340802C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004556.3:c.260G>T (NFKBIE) MANE Select	NP_004547.3:p.Gly87Val
ENST00000619360.6:c.260G>T (NFKBIE) MANE Select	ENSP00000480216.1:p.Gly87Val
NM_001318876.2:c.946-176803C>A (POLR1C)	NP_001305805.1:n.946-176803C>A
NM_004556.2:c.677G>T (NFKBIE)	NP_004547.2:p.Gly226Val
ENST00000275015.9:c.677G>T (NFKBIE)	ENSP00000275015.3:p.Gly226Val
ENST00000477930.2:c.260G>T (NFKBIE)	ENSP00000454778.2:p.Gly87Val
ENST00000616555.1:c.677G>T (NFKBIE)	ENSP00000479764.1:p.Gly226Val
ENST00000619360.4:c.260G>T (NFKBIE)	ENSP00000480216.1:p.Gly87Val