Canonical Allele Identifier: CA2678943765
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44258382-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44258382T>C , CM000668.2:g.44258382T>C GRCh38
NC_000006.11:g.44226119T>C , CM000668.1:g.44226119T>C GRCh37
NC_000006.10:g.44334097T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000619360.6:c.*837A>G (NFKBIE) MANE Select ENSP00000480216.1:n.*837A>G
ENST00000275015.9:c.*837A>G (NFKBIE) ENSP00000275015.3:n.*837A>G
ENST00000619360.4:c.*837A>G (NFKBIE) ENSP00000480216.1:n.*837A>G
NM_004556.2:c.*837A>G (NFKBIE) NP_004547.2:n.*837A>G
NM_004556.3:c.*837A>G (NFKBIE) MANE Select NP_004547.3:n.*837A>G
NM_001318876.2:c.946-183508T>C (POLR1C) NP_001305805.1:n.946-183508T>C