Canonical Allele Identifier: CA364301628
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.44228189T>G (hg19) chr6:g.44260452T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44260452T>G , CM000668.2:g.44260452T>G GRCh38
NC_000006.11:g.44228189T>G , CM000668.1:g.44228189T>G GRCh37
NC_000006.10:g.44336167T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000619360.6:c.779A>C (NFKBIE) MANE Select ENSP00000480216.1:p.Gln260Pro
ENST00000275015.9:c.1196A>C (NFKBIE) ENSP00000275015.3:p.Gln399Pro
ENST00000616555.1:c.1193A>C (NFKBIE) ENSP00000479764.1:p.Gln398Pro
ENST00000619360.4:c.779A>C (NFKBIE) ENSP00000480216.1:p.Gln260Pro
NM_004556.2:c.1196A>C (NFKBIE) NP_004547.2:p.Gln399Pro
NM_004556.3:c.779A>C (NFKBIE) MANE Select NP_004547.3:p.Gln260Pro
NM_001318876.2:c.946-181438T>G (POLR1C) NP_001305805.1:n.946-181438T>G
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