Canonical Allele Identifier: CA449687091

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918672A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950895A>G , CM000668.2:g.31950895A>G	GRCh38
NC_000006.11:g.31918672A>G , CM000668.1:g.31918672A>G	GRCh37
NC_000006.10:g.32026651A>G	NCBI36
NG_008191.1:g.9952A>G , LRG_136:g.9952A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2293A>G
ENST00000483004.2:c.1590A>G	ENSP00000419887.2:p.Gly530=
ENST00000698628.1:c.1625-249A>G	ENSP00000513848.1:n.1625-249A>G
ENST00000698629.1:n.2078A>G
ENST00000698630.1:n.2522A>G
ENST00000698631.1:n.2523A>G
ENST00000698632.1:n.3412A>G
ENST00000698633.1:n.3302A>G
ENST00000425368.7:c.1806A>G MANE Select	ENSP00000416561.2:p.Gly602=
ENST00000425368.6:c.1806A>G	ENSP00000416561.2:p.Gly602=
ENST00000456570.5:c.3312A>G	ENSP00000410815.1:p.Gly1104=
ENST00000467360.1:n.932A>G
ENST00000477310.1:c.2859A>G	ENSP00000418996.1:p.Gly953=
ENST00000482312.1:n.22A>G
ENST00000483004.1:c.428A>G
NM_001710.5:c.1806A>G , LRG_136t1:c.1806A>G	NP_001701.2:p.Gly602=
NM_001710.6:c.1806A>G MANE Select	NP_001701.2:p.Gly602=