Canonical Allele Identifier: CA2678943748
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44258367-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44258367C>A , CM000668.2:g.44258367C>A GRCh38
NC_000006.11:g.44226104C>A , CM000668.1:g.44226104C>A GRCh37
NC_000006.10:g.44334082C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000619360.6:c.*852G>T (NFKBIE) MANE Select ENSP00000480216.1:n.*852G>T
ENST00000275015.9:c.*852G>T (NFKBIE) ENSP00000275015.3:n.*852G>T
ENST00000619360.4:c.*852G>T (NFKBIE) ENSP00000480216.1:n.*852G>T
NM_004556.2:c.*852G>T (NFKBIE) NP_004547.2:n.*852G>T
NM_004556.3:c.*852G>T (NFKBIE) MANE Select NP_004547.3:n.*852G>T
NM_001318876.2:c.946-183523C>A (POLR1C) NP_001305805.1:n.946-183523C>A