Canonical Allele Identifier: CA364301635
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.44228190G>T (hg19) chr6:g.44260453G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44260453G>T , CM000668.2:g.44260453G>T GRCh38
NC_000006.11:g.44228190G>T , CM000668.1:g.44228190G>T GRCh37
NC_000006.10:g.44336168G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000619360.6:c.778C>A (NFKBIE) MANE Select ENSP00000480216.1:p.Gln260Lys
ENST00000275015.9:c.1195C>A (NFKBIE) ENSP00000275015.3:p.Gln399Lys
ENST00000616555.1:c.1192C>A (NFKBIE) ENSP00000479764.1:p.Gln398Lys
ENST00000619360.4:c.778C>A (NFKBIE) ENSP00000480216.1:p.Gln260Lys
NM_004556.2:c.1195C>A (NFKBIE) NP_004547.2:p.Gln399Lys
NM_004556.3:c.778C>A (NFKBIE) MANE Select NP_004547.3:p.Gln260Lys
NM_001318876.2:c.946-181437G>T (POLR1C) NP_001305805.1:n.946-181437G>T
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