Canonical Allele Identifier: CA138359069
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs117990197
gnomAD v2: 6-44228074-G-A
gnomAD v3: 6-44260337-G-A
gnomAD v4: 6-44260337-G-A
MyVariant Identifiers: chr6:g.44228074G>A (hg19) chr6:g.44260337G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44260337G>A , CM000668.2:g.44260337G>A GRCh38
NC_000006.11:g.44228074G>A , CM000668.1:g.44228074G>A GRCh37
NC_000006.10:g.44336052G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000619360.6:c.781-55C>T (NFKBIE) MANE Select ENSP00000480216.1:n.781-55C>T
ENST00000275015.9:c.1198-55C>T (NFKBIE) ENSP00000275015.3:n.1198-55C>T
ENST00000616555.1:c.1195-55C>T (NFKBIE) ENSP00000479764.1:n.1195-55C>T
ENST00000619360.4:c.781-55C>T (NFKBIE) ENSP00000480216.1:n.781-55C>T
NM_004556.2:c.1198-55C>T (NFKBIE) NP_004547.2:n.1198-55C>T
NM_004556.3:c.781-55C>T (NFKBIE) MANE Select NP_004547.3:n.781-55C>T
NM_001318876.2:c.946-181553G>A (POLR1C) NP_001305805.1:n.946-181553G>A
Search 100 bp 5'
Search 100 bp 3'