Canonical Allele Identifier: CA1619378536
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950667A= , CM000668.2:g.31950667A= GRCh38
NC_000006.11:g.31918444A= , CM000668.1:g.31918444A= GRCh37
NC_000006.10:g.32026423A= NCBI36
NG_008191.1:g.9724A= , LRG_136:g.9724A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2065A=
ENST00000483004.2:c.1457A= ENSP00000419887.2:p.Asn486=
ENST00000698628.1:c.1624+264A= ENSP00000513848.1:n.1624+264A=
ENST00000698629.1:n.1850A=
ENST00000698630.1:n.2389A=
ENST00000698631.1:n.2390A=
ENST00000698632.1:n.3184A=
ENST00000698633.1:n.3074A=
ENST00000698636.1:n.1895A=
ENST00000425368.7:c.1673A= MANE Select ENSP00000416561.2:p.Asn558=
ENST00000425368.6:c.1673A= ENSP00000416561.2:p.Asn558=
ENST00000456570.5:c.3179A= ENSP00000410815.1:p.Asn1060=
ENST00000467360.1:n.799A=
ENST00000477310.1:c.2726A= ENSP00000418996.1:p.Asn909=
ENST00000483004.1:c.295A=
NM_001710.5:c.1673A= , LRG_136t1:c.1673A= NP_001701.2:p.Asn558=
NM_001710.6:c.1673A= MANE Select NP_001701.2:p.Asn558=