Canonical Allele Identifier: CA1619378485
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950602C= , CM000668.2:g.31950602C= GRCh38
NC_000006.11:g.31918379C= , CM000668.1:g.31918379C= GRCh37
NC_000006.10:g.32026358C= NCBI36
NG_008191.1:g.9659C= , LRG_136:g.9659C=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2000C=
ENST00000483004.2:c.1409-17C= ENSP00000419887.2:n.1409-17C=
ENST00000698628.1:c.1624+199C= ENSP00000513848.1:n.1624+199C=
ENST00000698629.1:n.1802-17C=
ENST00000698630.1:n.2341-17C=
ENST00000698631.1:n.2342-17C=
ENST00000698632.1:n.3119C=
ENST00000698633.1:n.3009C=
ENST00000698636.1:n.1847-17C=
ENST00000425368.7:c.1625-17C= MANE Select ENSP00000416561.2:n.1625-17C=
ENST00000425368.6:c.1625-17C= ENSP00000416561.2:n.1625-17C=
ENST00000452035.6:n.1823C=
ENST00000456570.5:c.3131-17C= ENSP00000410815.1:n.3131-17C=
ENST00000467360.1:n.734C=
ENST00000477310.1:c.2678-17C= ENSP00000418996.1:n.2678-17C=
ENST00000483004.1:c.247-17C=
NM_001710.5:c.1625-17C= , LRG_136t1:c.1625-17C= NP_001701.2:n.1625-17C=
NM_001710.6:c.1625-17C= MANE Select NP_001701.2:n.1625-17C=