Canonical Allele Identifier: CA364308954
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44265183A>C , CM000668.2:g.44265183A>C GRCh38
NC_000006.11:g.44232920A>C , CM000668.1:g.44232920A>C GRCh37
NC_000006.10:g.44340898A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000619360.6:c.164T>G (NFKBIE) MANE Select ENSP00000480216.1:p.Val55Gly
ENST00000275015.9:c.581T>G (NFKBIE) ENSP00000275015.3:p.Val194Gly
ENST00000477930.2:c.164T>G (NFKBIE) ENSP00000454778.2:p.Val55Gly
ENST00000616555.1:c.581T>G (NFKBIE) ENSP00000479764.1:p.Val194Gly
ENST00000619360.4:c.164T>G (NFKBIE) ENSP00000480216.1:p.Val55Gly
NM_004556.2:c.581T>G (NFKBIE) NP_004547.2:p.Val194Gly
NM_004556.3:c.164T>G (NFKBIE) MANE Select NP_004547.3:p.Val55Gly
NM_001318876.2:c.946-176707A>C (POLR1C) NP_001305805.1:n.946-176707A>C