Canonical Allele Identifier: CA363409068

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918489A>G (hg19) ; chr6:g.31950712A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950712A>G , CM000668.2:g.31950712A>G	GRCh38
NC_000006.11:g.31918489A>G , CM000668.1:g.31918489A>G	GRCh37
NC_000006.10:g.32026468A>G	NCBI36
NG_008191.1:g.9769A>G , LRG_136:g.9769A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2110A>G
ENST00000483004.2:c.1502A>G	ENSP00000419887.2:p.Tyr501Cys
ENST00000698628.1:c.1624+309A>G	ENSP00000513848.1:n.1624+309A>G
ENST00000698629.1:n.1895A>G
ENST00000698630.1:n.2434A>G
ENST00000698631.1:n.2435A>G
ENST00000698632.1:n.3229A>G
ENST00000698633.1:n.3119A>G
ENST00000698636.1:n.1940A>G
ENST00000425368.7:c.1718A>G MANE Select	ENSP00000416561.2:p.Tyr573Cys
ENST00000425368.6:c.1718A>G	ENSP00000416561.2:p.Tyr573Cys
ENST00000456570.5:c.3224A>G	ENSP00000410815.1:p.Tyr1075Cys
ENST00000467360.1:n.844A>G
ENST00000477310.1:c.2771A>G	ENSP00000418996.1:p.Tyr924Cys
ENST00000483004.1:c.340A>G
NM_001710.5:c.1718A>G , LRG_136t1:c.1718A>G	NP_001701.2:p.Tyr573Cys
NM_001710.6:c.1718A>G MANE Select	NP_001701.2:p.Tyr573Cys