Canonical Allele Identifier: CA449687316

Gene: CFB

Linked Data

• dbSNP Id: rs369531605
• MyVariant Identifiers: chr6:g.31918714G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950937G>A , CM000668.2:g.31950937G>A	GRCh38
NC_000006.11:g.31918714G>A , CM000668.1:g.31918714G>A	GRCh37
NC_000006.10:g.32026693G>A	NCBI36
NG_008191.1:g.9994G>A , LRG_136:g.9994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2335G>A
ENST00000483004.2:c.1632G>A	ENSP00000419887.2:p.Gln544=
ENST00000698628.1:c.1625-207G>A	ENSP00000513848.1:n.1625-207G>A
ENST00000698629.1:n.2120G>A
ENST00000698630.1:n.2564G>A
ENST00000698631.1:n.2565G>A
ENST00000698632.1:n.3454G>A
ENST00000698633.1:n.3344G>A
ENST00000425368.7:c.1848G>A MANE Select	ENSP00000416561.2:p.Gln616=
ENST00000425368.6:c.1848G>A	ENSP00000416561.2:p.Gln616=
ENST00000456570.5:c.3354G>A	ENSP00000410815.1:p.Gln1118=
ENST00000467360.1:n.974G>A
ENST00000477310.1:c.2901G>A	ENSP00000418996.1:p.Gln967=
ENST00000482312.1:n.64G>A
ENST00000483004.1:c.470G>A
NM_001710.5:c.1848G>A , LRG_136t1:c.1848G>A	NP_001701.2:p.Gln616=
NM_001710.6:c.1848G>A MANE Select	NP_001701.2:p.Gln616=