Canonical Allele Identifier: CA1619378570
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950699A= , CM000668.2:g.31950699A= GRCh38
NC_000006.11:g.31918476A= , CM000668.1:g.31918476A= GRCh37
NC_000006.10:g.32026455A= NCBI36
NG_008191.1:g.9756A= , LRG_136:g.9756A=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2097A=
ENST00000483004.2:c.1489A= ENSP00000419887.2:p.Ile497=
ENST00000698628.1:c.1624+296A= ENSP00000513848.1:n.1624+296A=
ENST00000698629.1:n.1882A=
ENST00000698630.1:n.2421A=
ENST00000698631.1:n.2422A=
ENST00000698632.1:n.3216A=
ENST00000698633.1:n.3106A=
ENST00000698636.1:n.1927A=
ENST00000425368.7:c.1705A= MANE Select ENSP00000416561.2:p.Ile569=
ENST00000425368.6:c.1705A= ENSP00000416561.2:p.Ile569=
ENST00000456570.5:c.3211A= ENSP00000410815.1:p.Ile1071=
ENST00000467360.1:n.831A=
ENST00000477310.1:c.2758A= ENSP00000418996.1:p.Ile920=
ENST00000483004.1:c.327A=
NM_001710.5:c.1705A= , LRG_136t1:c.1705A= NP_001701.2:p.Ile569=
NM_001710.6:c.1705A= MANE Select NP_001701.2:p.Ile569=