Canonical Allele Identifier: CA1619378693
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950810G= , CM000668.2:g.31950810G= GRCh38
NC_000006.11:g.31918587G= , CM000668.1:g.31918587G= GRCh37
NC_000006.10:g.32026566G= NCBI36
NG_008191.1:g.9867G= , LRG_136:g.9867G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2208G=
ENST00000483004.2:c.1562+38G= ENSP00000419887.2:n.1562+38G=
ENST00000698628.1:c.1625-334G= ENSP00000513848.1:n.1625-334G=
ENST00000698629.1:n.1993G=
ENST00000698630.1:n.2494+38G=
ENST00000698631.1:n.2495+38G=
ENST00000698632.1:n.3327G=
ENST00000698633.1:n.3217G=
ENST00000425368.7:c.1778+38G= MANE Select ENSP00000416561.2:n.1778+38G=
ENST00000425368.6:c.1778+38G= ENSP00000416561.2:n.1778+38G=
ENST00000456570.5:c.3284+38G= ENSP00000410815.1:n.3284+38G=
ENST00000467360.1:n.904+38G=
ENST00000477310.1:c.2831+38G= ENSP00000418996.1:n.2831+38G=
ENST00000483004.1:c.400+38G=
NM_001710.5:c.1778+38G= , LRG_136t1:c.1778+38G= NP_001701.2:n.1778+38G=
NM_001710.6:c.1778+38G= MANE Select NP_001701.2:n.1778+38G=