Canonical Allele Identifier: CA363409886

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918683C>G (hg19) ; chr6:g.31950906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950906C>G , CM000668.2:g.31950906C>G	GRCh38
NC_000006.11:g.31918683C>G , CM000668.1:g.31918683C>G	GRCh37
NC_000006.10:g.32026662C>G	NCBI36
NG_008191.1:g.9963C>G , LRG_136:g.9963C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2304C>G
ENST00000483004.2:c.1601C>G	ENSP00000419887.2:p.Ala534Gly
ENST00000698628.1:c.1625-238C>G	ENSP00000513848.1:n.1625-238C>G
ENST00000698629.1:n.2089C>G
ENST00000698630.1:n.2533C>G
ENST00000698631.1:n.2534C>G
ENST00000698632.1:n.3423C>G
ENST00000698633.1:n.3313C>G
ENST00000425368.7:c.1817C>G MANE Select	ENSP00000416561.2:p.Ala606Gly
ENST00000425368.6:c.1817C>G	ENSP00000416561.2:p.Ala606Gly
ENST00000456570.5:c.3323C>G	ENSP00000410815.1:p.Ala1108Gly
ENST00000467360.1:n.943C>G
ENST00000477310.1:c.2870C>G	ENSP00000418996.1:p.Ala957Gly
ENST00000482312.1:n.33C>G
ENST00000483004.1:c.439C>G
NM_001710.5:c.1817C>G , LRG_136t1:c.1817C>G	NP_001701.2:p.Ala606Gly
NM_001710.6:c.1817C>G MANE Select	NP_001701.2:p.Ala606Gly