Canonical Allele Identifier: CA449686928

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918645G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950868G>A , CM000668.2:g.31950868G>A	GRCh38
NC_000006.11:g.31918645G>A , CM000668.1:g.31918645G>A	GRCh37
NC_000006.10:g.32026624G>A	NCBI36
NG_008191.1:g.9925G>A , LRG_136:g.9925G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2266G>A
ENST00000483004.2:c.1563G>A	ENSP00000419887.2:p.Arg521=
ENST00000698628.1:c.1625-276G>A	ENSP00000513848.1:n.1625-276G>A
ENST00000698629.1:n.2051G>A
ENST00000698630.1:n.2495G>A
ENST00000698631.1:n.2496G>A
ENST00000698632.1:n.3385G>A
ENST00000698633.1:n.3275G>A
ENST00000425368.7:c.1779G>A MANE Select	ENSP00000416561.2:p.Arg593=
ENST00000425368.6:c.1779G>A	ENSP00000416561.2:p.Arg593=
ENST00000456570.5:c.3285G>A	ENSP00000410815.1:p.Arg1095=
ENST00000467360.1:n.905G>A
ENST00000477310.1:c.2832G>A	ENSP00000418996.1:p.Arg944=
ENST00000483004.1:c.401G>A
NM_001710.5:c.1779G>A , LRG_136t1:c.1779G>A	NP_001701.2:p.Arg593=
NM_001710.6:c.1779G>A MANE Select	NP_001701.2:p.Arg593=