Canonical Allele Identifier: CA2678944657
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44260430-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44260430G>T , CM000668.2:g.44260430G>T GRCh38
NC_000006.11:g.44228167G>T , CM000668.1:g.44228167G>T GRCh37
NC_000006.10:g.44336145G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000619360.6:c.780+21C>A (NFKBIE) MANE Select ENSP00000480216.1:n.780+21C>A
ENST00000275015.9:c.1197+21C>A (NFKBIE) ENSP00000275015.3:n.1197+21C>A
ENST00000616555.1:c.1194+21C>A (NFKBIE) ENSP00000479764.1:n.1194+21C>A
ENST00000619360.4:c.780+21C>A (NFKBIE) ENSP00000480216.1:n.780+21C>A
NM_004556.2:c.1197+21C>A (NFKBIE) NP_004547.2:n.1197+21C>A
NM_004556.3:c.780+21C>A (NFKBIE) MANE Select NP_004547.3:n.780+21C>A
NM_001318876.2:c.946-181460G>T (POLR1C) NP_001305805.1:n.946-181460G>T
Search 100 bp 5'
Search 100 bp 3'