Canonical Allele Identifier: CA2678944624
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44260331-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44260331G>C , CM000668.2:g.44260331G>C GRCh38
NC_000006.11:g.44228068G>C , CM000668.1:g.44228068G>C GRCh37
NC_000006.10:g.44336046G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000619360.6:c.781-49C>G (NFKBIE) MANE Select ENSP00000480216.1:n.781-49C>G
ENST00000275015.9:c.1198-49C>G (NFKBIE) ENSP00000275015.3:n.1198-49C>G
ENST00000616555.1:c.1195-49C>G (NFKBIE) ENSP00000479764.1:n.1195-49C>G
ENST00000619360.4:c.781-49C>G (NFKBIE) ENSP00000480216.1:n.781-49C>G
NM_004556.2:c.1198-49C>G (NFKBIE) NP_004547.2:n.1198-49C>G
NM_004556.3:c.781-49C>G (NFKBIE) MANE Select NP_004547.3:n.781-49C>G
NM_001318876.2:c.946-181559G>C (POLR1C) NP_001305805.1:n.946-181559G>C