Canonical Allele Identifier: CA449811914

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914337C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946560C>G , CM000668.2:g.31946560C>G	GRCh38
NC_000006.11:g.31914337C>G , CM000668.1:g.31914337C>G	GRCh37
NC_000006.10:g.32022316C>G	NCBI36
NG_008191.1:g.5617C>G , LRG_136:g.5617C>G
NG_011730.1:g.24072C>G , LRG_26:g.24072C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.429C>G
ENST00000483004.2:c.252C>G	ENSP00000419887.2:p.Thr84=
ENST00000497841.6:c.252C>G	ENSP00000513847.1:p.Thr84=
ENST00000698628.1:c.252C>G	ENSP00000513848.1:p.Thr84=
ENST00000698629.1:n.429C>G
ENST00000698630.1:n.413C>G
ENST00000698631.1:n.408C>G
ENST00000698632.1:n.380C>G
ENST00000698633.1:n.350C>G
ENST00000698636.1:n.474C>G
ENST00000425368.7:c.252C>G MANE Select	ENSP00000416561.2:p.Thr84=
ENST00000425368.6:c.252C>G	ENSP00000416561.2:p.Thr84=
ENST00000452035.6:n.252C>G
ENST00000456570.5:c.1758C>G	ENSP00000410815.1:p.Thr586=
ENST00000460718.5:c.139C>G	ENSP00000417793.1:p.Pro47Ala
ENST00000472581.1:n.499C>G
ENST00000475617.5:c.252C>G	ENSP00000420090.1:p.Thr84=
ENST00000477310.1:c.1352-447C>G	ENSP00000418996.1:n.1352-447C>G
NM_001710.5:c.252C>G , LRG_136t1:c.252C>G	NP_001701.2:p.Thr84=
NM_001710.6:c.252C>G MANE Select	NP_001701.2:p.Thr84=