Canonical Allele Identifier: CA363388338

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914231T>G (hg19) ; chr6:g.31946454T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946454T>G , CM000668.2:g.31946454T>G	GRCh38
NC_000006.11:g.31914231T>G , CM000668.1:g.31914231T>G	GRCh37
NC_000006.10:g.32022210T>G	NCBI36
NG_008191.1:g.5511T>G , LRG_136:g.5511T>G
NG_011730.1:g.23966T>G , LRG_26:g.23966T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.323T>G
ENST00000483004.2:c.146T>G	ENSP00000419887.2:p.Phe49Cys
ENST00000497841.6:c.146T>G	ENSP00000513847.1:p.Phe49Cys
ENST00000698628.1:c.146T>G	ENSP00000513848.1:p.Phe49Cys
ENST00000698629.1:n.323T>G
ENST00000698630.1:n.307T>G
ENST00000698631.1:n.302T>G
ENST00000698632.1:n.274T>G
ENST00000698633.1:n.244T>G
ENST00000698636.1:n.368T>G
ENST00000425368.7:c.146T>G MANE Select	ENSP00000416561.2:p.Phe49Cys
ENST00000425368.6:c.146T>G	ENSP00000416561.2:p.Phe49Cys
ENST00000452035.6:n.146T>G
ENST00000456570.5:c.1652T>G	ENSP00000410815.1:p.Phe551Cys
ENST00000460718.5:c.65-32T>G	ENSP00000417793.1:n.65-32T>G
ENST00000472581.1:n.393T>G
ENST00000475617.5:c.146T>G	ENSP00000420090.1:p.Phe49Cys
ENST00000477310.1:c.1352-553T>G	ENSP00000418996.1:n.1352-553T>G
NM_001710.5:c.146T>G , LRG_136t1:c.146T>G	NP_001701.2:p.Phe49Cys
NM_001710.6:c.146T>G MANE Select	NP_001701.2:p.Phe49Cys