Canonical Allele Identifier: CA2678073796

Gene: CFB

Linked Data

• gnomAD v4: 6-31950523-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950523C>G , CM000668.2:g.31950523C>G	GRCh38
NC_000006.11:g.31918300C>G , CM000668.1:g.31918300C>G	GRCh37
NC_000006.10:g.32026279C>G	NCBI36
NG_008191.1:g.9580C>G , LRG_136:g.9580C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1921C>G
ENST00000483004.2:c.1409-96C>G	ENSP00000419887.2:n.1409-96C>G
ENST00000698628.1:c.1624+120C>G	ENSP00000513848.1:n.1624+120C>G
ENST00000698629.1:n.1802-96C>G
ENST00000698630.1:n.2341-96C>G
ENST00000698631.1:n.2342-96C>G
ENST00000698632.1:n.3040C>G
ENST00000698633.1:n.2930C>G
ENST00000698636.1:n.1847-96C>G
ENST00000425368.7:c.1625-96C>G MANE Select	ENSP00000416561.2:n.1625-96C>G
ENST00000425368.6:c.1625-96C>G	ENSP00000416561.2:n.1625-96C>G
ENST00000452035.6:n.1744C>G
ENST00000456570.5:c.3131-96C>G	ENSP00000410815.1:n.3131-96C>G
ENST00000467360.1:n.655C>G
ENST00000477310.1:c.2678-96C>G	ENSP00000418996.1:n.2678-96C>G
ENST00000483004.1:c.247-96C>G
NM_001710.5:c.1625-96C>G , LRG_136t1:c.1625-96C>G	NP_001701.2:n.1625-96C>G
NM_001710.6:c.1625-96C>G MANE Select	NP_001701.2:n.1625-96C>G