Canonical Allele Identifier: CA1619378546
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950681G= , CM000668.2:g.31950681G= GRCh38
NC_000006.11:g.31918458G= , CM000668.1:g.31918458G= GRCh37
NC_000006.10:g.32026437G= NCBI36
NG_008191.1:g.9738G= , LRG_136:g.9738G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2079G=
ENST00000483004.2:c.1471G= ENSP00000419887.2:p.Gly491=
ENST00000698628.1:c.1624+278G= ENSP00000513848.1:n.1624+278G=
ENST00000698629.1:n.1864G=
ENST00000698630.1:n.2403G=
ENST00000698631.1:n.2404G=
ENST00000698632.1:n.3198G=
ENST00000698633.1:n.3088G=
ENST00000698636.1:n.1909G=
ENST00000425368.7:c.1687G= MANE Select ENSP00000416561.2:p.Gly563=
ENST00000425368.6:c.1687G= ENSP00000416561.2:p.Gly563=
ENST00000456570.5:c.3193G= ENSP00000410815.1:p.Gly1065=
ENST00000467360.1:n.813G=
ENST00000477310.1:c.2740G= ENSP00000418996.1:p.Gly914=
ENST00000483004.1:c.309G=
NM_001710.5:c.1687G= , LRG_136t1:c.1687G= NP_001701.2:p.Gly563=
NM_001710.6:c.1687G= MANE Select NP_001701.2:p.Gly563=