Canonical Allele Identifier: CA363408416

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918178T>G (hg19) ; chr6:g.31950401T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950401T>G , CM000668.2:g.31950401T>G	GRCh38
NC_000006.11:g.31918178T>G , CM000668.1:g.31918178T>G	GRCh37
NC_000006.10:g.32026157T>G	NCBI36
NG_008191.1:g.9458T>G , LRG_136:g.9458T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1799T>G
ENST00000483004.2:c.1409-218T>G	ENSP00000419887.2:n.1409-218T>G
ENST00000698628.1:c.1622T>G	ENSP00000513848.1:p.Val541Gly
ENST00000698629.1:n.1799T>G
ENST00000698630.1:n.2338T>G
ENST00000698631.1:n.2339T>G
ENST00000698632.1:n.2918T>G
ENST00000698633.1:n.2808T>G
ENST00000698636.1:n.1844T>G
ENST00000425368.7:c.1622T>G MANE Select	ENSP00000416561.2:p.Val541Gly
ENST00000425368.6:c.1622T>G	ENSP00000416561.2:p.Val541Gly
ENST00000452035.6:n.1622T>G
ENST00000456570.5:c.3128T>G	ENSP00000410815.1:p.Val1043Gly
ENST00000467360.1:n.533T>G
ENST00000477310.1:c.2675T>G	ENSP00000418996.1:p.Val892Gly
ENST00000483004.1:c.247-218T>G
NM_001710.5:c.1622T>G , LRG_136t1:c.1622T>G	NP_001701.2:p.Val541Gly
NM_001710.6:c.1622T>G MANE Select	NP_001701.2:p.Val541Gly