Canonical Allele Identifier: CA136897639
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs878899081

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950616C>T , CM000668.2:g.31950616C>T GRCh38
NC_000006.11:g.31918393C>T , CM000668.1:g.31918393C>T GRCh37
NC_000006.10:g.32026372C>T NCBI36
NG_008191.1:g.9673C>T , LRG_136:g.9673C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2014C>T
ENST00000483004.2:c.1409-3C>T ENSP00000419887.2:n.1409-3C>T
ENST00000698628.1:c.1624+213C>T ENSP00000513848.1:n.1624+213C>T
ENST00000698629.1:n.1802-3C>T
ENST00000698630.1:n.2341-3C>T
ENST00000698631.1:n.2342-3C>T
ENST00000698632.1:n.3133C>T
ENST00000698633.1:n.3023C>T
ENST00000698636.1:n.1847-3C>T
ENST00000425368.7:c.1625-3C>T MANE Select ENSP00000416561.2:n.1625-3C>T
ENST00000425368.6:c.1625-3C>T ENSP00000416561.2:n.1625-3C>T
ENST00000452035.6:n.1837C>T
ENST00000456570.5:c.3131-3C>T ENSP00000410815.1:n.3131-3C>T
ENST00000467360.1:n.748C>T
ENST00000477310.1:c.2678-3C>T ENSP00000418996.1:n.2678-3C>T
ENST00000483004.1:c.247-3C>T
NM_001710.5:c.1625-3C>T , LRG_136t1:c.1625-3C>T NP_001701.2:n.1625-3C>T
NM_001710.6:c.1625-3C>T MANE Select NP_001701.2:n.1625-3C>T