Canonical Allele Identifier: CA1619378564
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950693G= , CM000668.2:g.31950693G= GRCh38
NC_000006.11:g.31918470G= , CM000668.1:g.31918470G= GRCh37
NC_000006.10:g.32026449G= NCBI36
NG_008191.1:g.9750G= , LRG_136:g.9750G=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2091G=
ENST00000483004.2:c.1483G= ENSP00000419887.2:p.Ala495=
ENST00000698628.1:c.1624+290G= ENSP00000513848.1:n.1624+290G=
ENST00000698629.1:n.1876G=
ENST00000698630.1:n.2415G=
ENST00000698631.1:n.2416G=
ENST00000698632.1:n.3210G=
ENST00000698633.1:n.3100G=
ENST00000698636.1:n.1921G=
ENST00000425368.7:c.1699G= MANE Select ENSP00000416561.2:p.Ala567=
ENST00000425368.6:c.1699G= ENSP00000416561.2:p.Ala567=
ENST00000456570.5:c.3205G= ENSP00000410815.1:p.Ala1069=
ENST00000467360.1:n.825G=
ENST00000477310.1:c.2752G= ENSP00000418996.1:p.Ala918=
ENST00000483004.1:c.321G=
NM_001710.5:c.1699G= , LRG_136t1:c.1699G= NP_001701.2:p.Ala567=
NM_001710.6:c.1699G= MANE Select NP_001701.2:p.Ala567=