Canonical Allele Identifier: CA1619378714
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950827G= , CM000668.2:g.31950827G= GRCh38
NC_000006.11:g.31918604G= , CM000668.1:g.31918604G= GRCh37
NC_000006.10:g.32026583G= NCBI36
NG_008191.1:g.9884G= , LRG_136:g.9884G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2225G=
ENST00000483004.2:c.1563-41G= ENSP00000419887.2:n.1563-41G=
ENST00000698628.1:c.1625-317G= ENSP00000513848.1:n.1625-317G=
ENST00000698629.1:n.2010G=
ENST00000698630.1:n.2495-41G=
ENST00000698631.1:n.2496-41G=
ENST00000698632.1:n.3344G=
ENST00000698633.1:n.3234G=
ENST00000425368.7:c.1779-41G= MANE Select ENSP00000416561.2:n.1779-41G=
ENST00000425368.6:c.1779-41G= ENSP00000416561.2:n.1779-41G=
ENST00000456570.5:c.3285-41G= ENSP00000410815.1:n.3285-41G=
ENST00000467360.1:n.905-41G=
ENST00000477310.1:c.2832-41G= ENSP00000418996.1:n.2832-41G=
ENST00000483004.1:c.401-41G=
NM_001710.5:c.1779-41G= , LRG_136t1:c.1779-41G= NP_001701.2:n.1779-41G=
NM_001710.6:c.1779-41G= MANE Select NP_001701.2:n.1779-41G=