Canonical Allele Identifier: CA1619378488
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950607C= , CM000668.2:g.31950607C= GRCh38
NC_000006.11:g.31918384C= , CM000668.1:g.31918384C= GRCh37
NC_000006.10:g.32026363C= NCBI36
NG_008191.1:g.9664C= , LRG_136:g.9664C=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2005C=
ENST00000483004.2:c.1409-12C= ENSP00000419887.2:n.1409-12C=
ENST00000698628.1:c.1624+204C= ENSP00000513848.1:n.1624+204C=
ENST00000698629.1:n.1802-12C=
ENST00000698630.1:n.2341-12C=
ENST00000698631.1:n.2342-12C=
ENST00000698632.1:n.3124C=
ENST00000698633.1:n.3014C=
ENST00000698636.1:n.1847-12C=
ENST00000425368.7:c.1625-12C= MANE Select ENSP00000416561.2:n.1625-12C=
ENST00000425368.6:c.1625-12C= ENSP00000416561.2:n.1625-12C=
ENST00000452035.6:n.1828C=
ENST00000456570.5:c.3131-12C= ENSP00000410815.1:n.3131-12C=
ENST00000467360.1:n.739C=
ENST00000477310.1:c.2678-12C= ENSP00000418996.1:n.2678-12C=
ENST00000483004.1:c.247-12C=
NM_001710.5:c.1625-12C= , LRG_136t1:c.1625-12C= NP_001701.2:n.1625-12C=
NM_001710.6:c.1625-12C= MANE Select NP_001701.2:n.1625-12C=