Canonical Allele Identifier: CA1619378622
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950766C= , CM000668.2:g.31950766C= GRCh38
NC_000006.11:g.31918543C= , CM000668.1:g.31918543C= GRCh37
NC_000006.10:g.32026522C= NCBI36
NG_008191.1:g.9823C= , LRG_136:g.9823C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2164C=
ENST00000483004.2:c.1556C= ENSP00000419887.2:p.Thr519=
ENST00000698628.1:c.1624+363C= ENSP00000513848.1:n.1624+363C=
ENST00000698629.1:n.1949C=
ENST00000698630.1:n.2488C=
ENST00000698631.1:n.2489C=
ENST00000698632.1:n.3283C=
ENST00000698633.1:n.3173C=
ENST00000698636.1:n.1994C=
ENST00000425368.7:c.1772C= MANE Select ENSP00000416561.2:p.Thr591=
ENST00000425368.6:c.1772C= ENSP00000416561.2:p.Thr591=
ENST00000456570.5:c.3278C= ENSP00000410815.1:p.Thr1093=
ENST00000467360.1:n.898C=
ENST00000477310.1:c.2825C= ENSP00000418996.1:p.Thr942=
ENST00000483004.1:c.394C=
NM_001710.5:c.1772C= , LRG_136t1:c.1772C= NP_001701.2:p.Thr591=
NM_001710.6:c.1772C= MANE Select NP_001701.2:p.Thr591=