Canonical Allele Identifier: CA2578572481

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951061del , CM000668.2:g.31951061del	GRCh38
NC_000006.11:g.31918838del , CM000668.1:g.31918838del	GRCh37
NC_000006.10:g.32026817del	NCBI36
NG_008191.1:g.10118del , LRG_136:g.10118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+117del
ENST00000483004.2:c.1640-83del	ENSP00000419887.2:n.1640-83del
ENST00000698628.1:c.1625-83del	ENSP00000513848.1:n.1625-83del
ENST00000698629.1:n.2127+117del
ENST00000698630.1:n.2572-83del
ENST00000698631.1:n.2573-83del
ENST00000698632.1:n.3578del
ENST00000698633.1:n.3468del
ENST00000425368.7:c.1856-83del MANE Select	ENSP00000416561.2:n.1856-83del
ENST00000425368.6:c.1856-83del	ENSP00000416561.2:n.1856-83del
ENST00000456570.5:c.3362-83del	ENSP00000410815.1:n.3362-83del
ENST00000467360.1:n.982-83del
ENST00000477310.1:c.2909-83del	ENSP00000418996.1:n.2909-83del
ENST00000482312.1:n.188del
ENST00000483004.1:c.478-83del
NM_001710.5:c.1856-83del , LRG_136t1:c.1856-83del	NP_001701.2:n.1856-83del
NM_001710.6:c.1856-83del MANE Select	NP_001701.2:n.1856-83del