Canonical Allele Identifier: CA136897590

Gene: CFB

Linked Data

• dbSNP Id: rs753195061
• gnomAD v3: 6-31950576-G-A
• gnomAD v4: 6-31950576-G-A
• MyVariant Identifiers: chr6:g.31918353G>A (hg19) ; chr6:g.31950576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950576G>A , CM000668.2:g.31950576G>A	GRCh38
NC_000006.11:g.31918353G>A , CM000668.1:g.31918353G>A	GRCh37
NC_000006.10:g.32026332G>A	NCBI36
NG_008191.1:g.9633G>A , LRG_136:g.9633G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1974G>A
ENST00000483004.2:c.1409-43G>A	ENSP00000419887.2:n.1409-43G>A
ENST00000698628.1:c.1624+173G>A	ENSP00000513848.1:n.1624+173G>A
ENST00000698629.1:n.1802-43G>A
ENST00000698630.1:n.2341-43G>A
ENST00000698631.1:n.2342-43G>A
ENST00000698632.1:n.3093G>A
ENST00000698633.1:n.2983G>A
ENST00000698636.1:n.1847-43G>A
ENST00000425368.7:c.1625-43G>A MANE Select	ENSP00000416561.2:n.1625-43G>A
ENST00000425368.6:c.1625-43G>A	ENSP00000416561.2:n.1625-43G>A
ENST00000452035.6:n.1797G>A
ENST00000456570.5:c.3131-43G>A	ENSP00000410815.1:n.3131-43G>A
ENST00000467360.1:n.708G>A
ENST00000477310.1:c.2678-43G>A	ENSP00000418996.1:n.2678-43G>A
ENST00000483004.1:c.247-43G>A
NM_001710.5:c.1625-43G>A , LRG_136t1:c.1625-43G>A	NP_001701.2:n.1625-43G>A
NM_001710.6:c.1625-43G>A MANE Select	NP_001701.2:n.1625-43G>A