Canonical Allele Identifier: CA3728417
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs781302176
gnomAD v2: 6-31918390-C-A
gnomAD v4: 6-31950613-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950613C>A , CM000668.2:g.31950613C>A GRCh38
NC_000006.11:g.31918390C>A , CM000668.1:g.31918390C>A GRCh37
NC_000006.10:g.32026369C>A NCBI36
NG_008191.1:g.9670C>A , LRG_136:g.9670C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2011C>A
ENST00000483004.2:c.1409-6C>A ENSP00000419887.2:n.1409-6C>A
ENST00000698628.1:c.1624+210C>A ENSP00000513848.1:n.1624+210C>A
ENST00000698629.1:n.1802-6C>A
ENST00000698630.1:n.2341-6C>A
ENST00000698631.1:n.2342-6C>A
ENST00000698632.1:n.3130C>A
ENST00000698633.1:n.3020C>A
ENST00000698636.1:n.1847-6C>A
ENST00000425368.7:c.1625-6C>A MANE Select ENSP00000416561.2:n.1625-6C>A
ENST00000425368.6:c.1625-6C>A ENSP00000416561.2:n.1625-6C>A
ENST00000452035.6:n.1834C>A
ENST00000456570.5:c.3131-6C>A ENSP00000410815.1:n.3131-6C>A
ENST00000467360.1:n.745C>A
ENST00000477310.1:c.2678-6C>A ENSP00000418996.1:n.2678-6C>A
ENST00000483004.1:c.247-6C>A
NM_001710.5:c.1625-6C>A , LRG_136t1:c.1625-6C>A NP_001701.2:n.1625-6C>A
NM_001710.6:c.1625-6C>A MANE Select NP_001701.2:n.1625-6C>A