Canonical Allele Identifier: CA449812124

Gene: CFB

Linked Data

• dbSNP Id: rs1436231996
• gnomAD v2: 6-31918469-A-G
• gnomAD v4: 6-31950692-A-G
• MyVariant Identifiers: chr6:g.31918469A>G (hg19) ; chr6:g.31950692A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950692A>G , CM000668.2:g.31950692A>G	GRCh38
NC_000006.11:g.31918469A>G , CM000668.1:g.31918469A>G	GRCh37
NC_000006.10:g.32026448A>G	NCBI36
NG_008191.1:g.9749A>G , LRG_136:g.9749A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2090A>G
ENST00000483004.2:c.1482A>G	ENSP00000419887.2:p.Glu494=
ENST00000698628.1:c.1624+289A>G	ENSP00000513848.1:n.1624+289A>G
ENST00000698629.1:n.1875A>G
ENST00000698630.1:n.2414A>G
ENST00000698631.1:n.2415A>G
ENST00000698632.1:n.3209A>G
ENST00000698633.1:n.3099A>G
ENST00000698636.1:n.1920A>G
ENST00000425368.7:c.1698A>G MANE Select	ENSP00000416561.2:p.Glu566=
ENST00000425368.6:c.1698A>G	ENSP00000416561.2:p.Glu566=
ENST00000456570.5:c.3204A>G	ENSP00000410815.1:p.Glu1068=
ENST00000467360.1:n.824A>G
ENST00000477310.1:c.2751A>G	ENSP00000418996.1:p.Glu917=
ENST00000483004.1:c.320A>G
NM_001710.5:c.1698A>G , LRG_136t1:c.1698A>G	NP_001701.2:p.Glu566=
NM_001710.6:c.1698A>G MANE Select	NP_001701.2:p.Glu566=