Canonical Allele Identifier: CA1619374649
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946283G= , CM000668.2:g.31946283G= GRCh38
NC_000006.11:g.31914060G= , CM000668.1:g.31914060G= GRCh37
NC_000006.10:g.32022039G= NCBI36
NG_008191.1:g.5340G= , LRG_136:g.5340G=
NG_011730.1:g.23795G= , LRG_26:g.23795G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.239G=
ENST00000483004.2:c.62G= ENSP00000419887.2:p.Gly21=
ENST00000497841.6:c.62G= ENSP00000513847.1:p.Gly21=
ENST00000698628.1:c.62G= ENSP00000513848.1:p.Gly21=
ENST00000698629.1:n.239G=
ENST00000698630.1:n.223G=
ENST00000698631.1:n.218G=
ENST00000698632.1:n.190G=
ENST00000698633.1:n.160G=
ENST00000698636.1:n.284G=
ENST00000425368.7:c.62G= MANE Select ENSP00000416561.2:p.Gly21=
ENST00000425368.6:c.62G= ENSP00000416561.2:p.Gly21=
ENST00000452035.6:n.62G=
ENST00000456570.5:c.1571-90G= ENSP00000410815.1:n.1571-90G=
ENST00000460718.5:c.62G= ENSP00000417793.1:p.Gly21=
ENST00000472581.1:n.309G=
ENST00000475617.5:c.62G= ENSP00000420090.1:p.Gly21=
ENST00000477310.1:c.1352-724G= ENSP00000418996.1:n.1352-724G=
NM_001710.5:c.62G= , LRG_136t1:c.62G= NP_001701.2:p.Gly21=
NM_001710.6:c.62G= MANE Select NP_001701.2:p.Gly21=