Canonical Allele Identifier: CA1619378567
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950696G= , CM000668.2:g.31950696G= GRCh38
NC_000006.11:g.31918473G= , CM000668.1:g.31918473G= GRCh37
NC_000006.10:g.32026452G= NCBI36
NG_008191.1:g.9753G= , LRG_136:g.9753G=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2094G=
ENST00000483004.2:c.1486G= ENSP00000419887.2:p.Gly496=
ENST00000698628.1:c.1624+293G= ENSP00000513848.1:n.1624+293G=
ENST00000698629.1:n.1879G=
ENST00000698630.1:n.2418G=
ENST00000698631.1:n.2419G=
ENST00000698632.1:n.3213G=
ENST00000698633.1:n.3103G=
ENST00000698636.1:n.1924G=
ENST00000425368.7:c.1702G= MANE Select ENSP00000416561.2:p.Gly568=
ENST00000425368.6:c.1702G= ENSP00000416561.2:p.Gly568=
ENST00000456570.5:c.3208G= ENSP00000410815.1:p.Gly1070=
ENST00000467360.1:n.828G=
ENST00000477310.1:c.2755G= ENSP00000418996.1:p.Gly919=
ENST00000483004.1:c.324G=
NM_001710.5:c.1702G= , LRG_136t1:c.1702G= NP_001701.2:p.Gly568=
NM_001710.6:c.1702G= MANE Select NP_001701.2:p.Gly568=