Canonical Allele Identifier: CA2678943746
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44258365-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44258365T>A , CM000668.2:g.44258365T>A GRCh38
NC_000006.11:g.44226102T>A , CM000668.1:g.44226102T>A GRCh37
NC_000006.10:g.44334080T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000619360.6:c.*854A>T (NFKBIE) MANE Select ENSP00000480216.1:n.*854A>T
ENST00000275015.9:c.*854A>T (NFKBIE) ENSP00000275015.3:n.*854A>T
ENST00000619360.4:c.*854A>T (NFKBIE) ENSP00000480216.1:n.*854A>T
NM_004556.2:c.*854A>T (NFKBIE) NP_004547.2:n.*854A>T
NM_004556.3:c.*854A>T (NFKBIE) MANE Select NP_004547.3:n.*854A>T
NM_001318876.2:c.946-183525T>A (POLR1C) NP_001305805.1:n.946-183525T>A