Canonical Allele Identifier: CA1619378489
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950610C= , CM000668.2:g.31950610C= GRCh38
NC_000006.11:g.31918387C= , CM000668.1:g.31918387C= GRCh37
NC_000006.10:g.32026366C= NCBI36
NG_008191.1:g.9667C= , LRG_136:g.9667C=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2008C=
ENST00000483004.2:c.1409-9C= ENSP00000419887.2:n.1409-9C=
ENST00000698628.1:c.1624+207C= ENSP00000513848.1:n.1624+207C=
ENST00000698629.1:n.1802-9C=
ENST00000698630.1:n.2341-9C=
ENST00000698631.1:n.2342-9C=
ENST00000698632.1:n.3127C=
ENST00000698633.1:n.3017C=
ENST00000698636.1:n.1847-9C=
ENST00000425368.7:c.1625-9C= MANE Select ENSP00000416561.2:n.1625-9C=
ENST00000425368.6:c.1625-9C= ENSP00000416561.2:n.1625-9C=
ENST00000452035.6:n.1831C=
ENST00000456570.5:c.3131-9C= ENSP00000410815.1:n.3131-9C=
ENST00000467360.1:n.742C=
ENST00000477310.1:c.2678-9C= ENSP00000418996.1:n.2678-9C=
ENST00000483004.1:c.247-9C=
NM_001710.5:c.1625-9C= , LRG_136t1:c.1625-9C= NP_001701.2:n.1625-9C=
NM_001710.6:c.1625-9C= MANE Select NP_001701.2:n.1625-9C=