Canonical Allele Identifier: CA2678943764
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44258381-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44258381A>G , CM000668.2:g.44258381A>G GRCh38
NC_000006.11:g.44226118A>G , CM000668.1:g.44226118A>G GRCh37
NC_000006.10:g.44334096A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000619360.6:c.*838T>C (NFKBIE) MANE Select ENSP00000480216.1:n.*838T>C
ENST00000275015.9:c.*838T>C (NFKBIE) ENSP00000275015.3:n.*838T>C
ENST00000619360.4:c.*838T>C (NFKBIE) ENSP00000480216.1:n.*838T>C
NM_004556.2:c.*838T>C (NFKBIE) NP_004547.2:n.*838T>C
NM_004556.3:c.*838T>C (NFKBIE) MANE Select NP_004547.3:n.*838T>C
NM_001318876.2:c.946-183509A>G (POLR1C) NP_001305805.1:n.946-183509A>G