Canonical Allele Identifier: CA136894909

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31948393A>G , CM000668.2:g.31948393A>G	GRCh38
NC_000006.11:g.31916170A>G , CM000668.1:g.31916170A>G	GRCh37
NC_000006.10:g.32024149A>G	NCBI36
NG_008191.1:g.7450A>G , LRG_136:g.7450A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001710.6:c.917A>G MANE Select	NP_001701.2:p.Lys306Arg
ENST00000425368.7:c.917A>G MANE Select	ENSP00000416561.2:p.Lys306Arg
NM_001710.5:c.917A>G , LRG_136t1:c.917A>G	NP_001701.2:p.Lys306Arg
ENST00000425368.6:c.917A>G	ENSP00000416561.2:p.Lys306Arg
ENST00000452035.6:n.917A>G
ENST00000452035.7:n.1094A>G
ENST00000456570.5:c.2423A>G	ENSP00000410815.1:p.Lys808Arg
ENST00000461483.5:n.792A>G
ENST00000465750.5:n.36A>G
ENST00000477310.1:c.1970A>G	ENSP00000418996.1:p.Lys657Arg
ENST00000483004.2:c.917A>G	ENSP00000419887.2:p.Lys306Arg
ENST00000497841.5:n.204A>G
ENST00000497841.6:c.917A>G	ENSP00000513847.1:p.Lys306Arg
ENST00000698628.1:c.917A>G	ENSP00000513848.1:p.Lys306Arg
ENST00000698629.1:n.1094A>G
ENST00000698630.1:n.1633A>G
ENST00000698631.1:n.1634A>G
ENST00000698632.1:n.2213A>G
ENST00000698633.1:n.2028A>G
ENST00000698636.1:n.1139A>G