Canonical Allele Identifier: CA1619378569
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950697G= , CM000668.2:g.31950697G= GRCh38
NC_000006.11:g.31918474G= , CM000668.1:g.31918474G= GRCh37
NC_000006.10:g.32026453G= NCBI36
NG_008191.1:g.9754G= , LRG_136:g.9754G=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2095G=
ENST00000483004.2:c.1487G= ENSP00000419887.2:p.Gly496=
ENST00000698628.1:c.1624+294G= ENSP00000513848.1:n.1624+294G=
ENST00000698629.1:n.1880G=
ENST00000698630.1:n.2419G=
ENST00000698631.1:n.2420G=
ENST00000698632.1:n.3214G=
ENST00000698633.1:n.3104G=
ENST00000698636.1:n.1925G=
ENST00000425368.7:c.1703G= MANE Select ENSP00000416561.2:p.Gly568=
ENST00000425368.6:c.1703G= ENSP00000416561.2:p.Gly568=
ENST00000456570.5:c.3209G= ENSP00000410815.1:p.Gly1070=
ENST00000467360.1:n.829G=
ENST00000477310.1:c.2756G= ENSP00000418996.1:p.Gly919=
ENST00000483004.1:c.325G=
NM_001710.5:c.1703G= , LRG_136t1:c.1703G= NP_001701.2:p.Gly568=
NM_001710.6:c.1703G= MANE Select NP_001701.2:p.Gly568=