Canonical Allele Identifier: CA1619378614
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950759G= , CM000668.2:g.31950759G= GRCh38
NC_000006.11:g.31918536G= , CM000668.1:g.31918536G= GRCh37
NC_000006.10:g.32026515G= NCBI36
NG_008191.1:g.9816G= , LRG_136:g.9816G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2157G=
ENST00000483004.2:c.1549G= ENSP00000419887.2:p.Gly517=
ENST00000698628.1:c.1624+356G= ENSP00000513848.1:n.1624+356G=
ENST00000698629.1:n.1942G=
ENST00000698630.1:n.2481G=
ENST00000698631.1:n.2482G=
ENST00000698632.1:n.3276G=
ENST00000698633.1:n.3166G=
ENST00000698636.1:n.1987G=
ENST00000425368.7:c.1765G= MANE Select ENSP00000416561.2:p.Gly589=
ENST00000425368.6:c.1765G= ENSP00000416561.2:p.Gly589=
ENST00000456570.5:c.3271G= ENSP00000410815.1:p.Gly1091=
ENST00000467360.1:n.891G=
ENST00000477310.1:c.2818G= ENSP00000418996.1:p.Gly940=
ENST00000483004.1:c.387G=
NM_001710.5:c.1765G= , LRG_136t1:c.1765G= NP_001701.2:p.Gly589=
NM_001710.6:c.1765G= MANE Select NP_001701.2:p.Gly589=