Canonical Allele Identifier: CA1624891762
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44264337A>C , CM000668.2:g.44264337A>C GRCh38
NC_000006.11:g.44232074A>C , CM000668.1:g.44232074A>C GRCh37
NC_000006.10:g.44340052A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000619360.6:c.365+645T>G (NFKBIE) MANE Select ENSP00000480216.1:n.365+645T>G
ENST00000275015.9:c.782+645T>G (NFKBIE) ENSP00000275015.3:n.782+645T>G
ENST00000477930.2:c.365+645T>G (NFKBIE) ENSP00000454778.2:n.365+645T>G
ENST00000616555.1:c.782+645T>G (NFKBIE) ENSP00000479764.1:n.782+645T>G
ENST00000619360.4:c.365+645T>G (NFKBIE) ENSP00000480216.1:n.365+645T>G
NM_004556.2:c.782+645T>G (NFKBIE) NP_004547.2:n.782+645T>G
NM_004556.3:c.365+645T>G (NFKBIE) MANE Select NP_004547.3:n.365+645T>G
NM_001318876.2:c.946-177553A>C (POLR1C) NP_001305805.1:n.946-177553A>C