Canonical Allele Identifier: CA1624897490
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44260431T= , CM000668.2:g.44260431T= GRCh38
NC_000006.11:g.44228168T= , CM000668.1:g.44228168T= GRCh37
NC_000006.10:g.44336146T= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000619360.6:c.780+20A= (NFKBIE) MANE Select ENSP00000480216.1:n.780+20A=
ENST00000275015.9:c.1197+20A= (NFKBIE) ENSP00000275015.3:n.1197+20A=
ENST00000616555.1:c.1194+20A= (NFKBIE) ENSP00000479764.1:n.1194+20A=
ENST00000619360.4:c.780+20A= (NFKBIE) ENSP00000480216.1:n.780+20A=
NM_004556.2:c.1197+20A= (NFKBIE) NP_004547.2:n.1197+20A=
NM_004556.3:c.780+20A= (NFKBIE) MANE Select NP_004547.3:n.780+20A=
NM_001318876.2:c.946-181459T= (POLR1C) NP_001305805.1:n.946-181459T=