Canonical Allele Identifier: CA1619378863
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951068C= , CM000668.2:g.31951068C= GRCh38
NC_000006.11:g.31918845C= , CM000668.1:g.31918845C= GRCh37
NC_000006.10:g.32026824C= NCBI36
NG_008191.1:g.10125C= , LRG_136:g.10125C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2342+124C=
ENST00000483004.2:c.1640-76C= ENSP00000419887.2:n.1640-76C=
ENST00000698628.1:c.1625-76C= ENSP00000513848.1:n.1625-76C=
ENST00000698629.1:n.2127+124C=
ENST00000698630.1:n.2572-76C=
ENST00000698631.1:n.2573-76C=
ENST00000698632.1:n.3585C=
ENST00000698633.1:n.3475C=
ENST00000425368.7:c.1856-76C= MANE Select ENSP00000416561.2:n.1856-76C=
ENST00000425368.6:c.1856-76C= ENSP00000416561.2:n.1856-76C=
ENST00000456570.5:c.3362-76C= ENSP00000410815.1:n.3362-76C=
ENST00000467360.1:n.982-76C=
ENST00000477310.1:c.2909-76C= ENSP00000418996.1:n.2909-76C=
ENST00000482312.1:n.195C=
ENST00000483004.1:c.478-76C=
NM_001710.5:c.1856-76C= , LRG_136t1:c.1856-76C= NP_001701.2:n.1856-76C=
NM_001710.6:c.1856-76C= MANE Select NP_001701.2:n.1856-76C=