Canonical Allele Identifier: CA364311061
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44265697T>G , CM000668.2:g.44265697T>G GRCh38
NC_000006.11:g.44233434T>G , CM000668.1:g.44233434T>G GRCh37
NC_000006.10:g.44341412T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275015.9:c.67A>C (NFKBIE) ENSP00000275015.3:p.Lys23Gln
ENST00000616555.1:c.67A>C (NFKBIE) ENSP00000479764.1:p.Lys23Gln
NM_004556.2:c.67A>C (NFKBIE) NP_004547.2:p.Lys23Gln
NM_001318876.2:c.946-176193T>G (POLR1C) NP_001305805.1:n.946-176193T>G