Canonical Allele Identifier: CA2711462152
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs2151786852

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950574C>A , CM000668.2:g.31950574C>A GRCh38
NC_000006.11:g.31918351C>A , CM000668.1:g.31918351C>A GRCh37
NC_000006.10:g.32026330C>A NCBI36
NG_008191.1:g.9631C>A , LRG_136:g.9631C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.1972C>A
ENST00000483004.2:c.1409-45C>A ENSP00000419887.2:n.1409-45C>A
ENST00000698628.1:c.1624+171C>A ENSP00000513848.1:n.1624+171C>A
ENST00000698629.1:n.1802-45C>A
ENST00000698630.1:n.2341-45C>A
ENST00000698631.1:n.2342-45C>A
ENST00000698632.1:n.3091C>A
ENST00000698633.1:n.2981C>A
ENST00000698636.1:n.1847-45C>A
ENST00000425368.7:c.1625-45C>A MANE Select ENSP00000416561.2:n.1625-45C>A
ENST00000425368.6:c.1625-45C>A ENSP00000416561.2:n.1625-45C>A
ENST00000452035.6:n.1795C>A
ENST00000456570.5:c.3131-45C>A ENSP00000410815.1:n.3131-45C>A
ENST00000467360.1:n.706C>A
ENST00000477310.1:c.2678-45C>A ENSP00000418996.1:n.2678-45C>A
ENST00000483004.1:c.247-45C>A
NM_001710.5:c.1625-45C>A , LRG_136t1:c.1625-45C>A NP_001701.2:n.1625-45C>A
NM_001710.6:c.1625-45C>A MANE Select NP_001701.2:n.1625-45C>A