Canonical Allele Identifier: CA363409055

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918486T>G (hg19) ; chr6:g.31950709T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950709T>G , CM000668.2:g.31950709T>G	GRCh38
NC_000006.11:g.31918486T>G , CM000668.1:g.31918486T>G	GRCh37
NC_000006.10:g.32026465T>G	NCBI36
NG_008191.1:g.9766T>G , LRG_136:g.9766T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2107T>G
ENST00000483004.2:c.1499T>G	ENSP00000419887.2:p.Phe500Cys
ENST00000698628.1:c.1624+306T>G	ENSP00000513848.1:n.1624+306T>G
ENST00000698629.1:n.1892T>G
ENST00000698630.1:n.2431T>G
ENST00000698631.1:n.2432T>G
ENST00000698632.1:n.3226T>G
ENST00000698633.1:n.3116T>G
ENST00000698636.1:n.1937T>G
ENST00000425368.7:c.1715T>G MANE Select	ENSP00000416561.2:p.Phe572Cys
ENST00000425368.6:c.1715T>G	ENSP00000416561.2:p.Phe572Cys
ENST00000456570.5:c.3221T>G	ENSP00000410815.1:p.Phe1074Cys
ENST00000467360.1:n.841T>G
ENST00000477310.1:c.2768T>G	ENSP00000418996.1:p.Phe923Cys
ENST00000483004.1:c.337T>G
NM_001710.5:c.1715T>G , LRG_136t1:c.1715T>G	NP_001701.2:p.Phe572Cys
NM_001710.6:c.1715T>G MANE Select	NP_001701.2:p.Phe572Cys