Canonical Allele Identifier: CA1619378855

Gene: CFB

Linked Data

• dbSNP Id: rs1771729014
• gnomAD v4: 6-31951052-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951052A>G , CM000668.2:g.31951052A>G	GRCh38
NC_000006.11:g.31918829A>G , CM000668.1:g.31918829A>G	GRCh37
NC_000006.10:g.32026808A>G	NCBI36
NG_008191.1:g.10109A>G , LRG_136:g.10109A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+108A>G
ENST00000483004.2:c.1640-92A>G	ENSP00000419887.2:n.1640-92A>G
ENST00000698628.1:c.1625-92A>G	ENSP00000513848.1:n.1625-92A>G
ENST00000698629.1:n.2127+108A>G
ENST00000698630.1:n.2572-92A>G
ENST00000698631.1:n.2573-92A>G
ENST00000698632.1:n.3569A>G
ENST00000698633.1:n.3459A>G
ENST00000425368.7:c.1856-92A>G MANE Select	ENSP00000416561.2:n.1856-92A>G
ENST00000425368.6:c.1856-92A>G	ENSP00000416561.2:n.1856-92A>G
ENST00000456570.5:c.3362-92A>G	ENSP00000410815.1:n.3362-92A>G
ENST00000467360.1:n.982-92A>G
ENST00000477310.1:c.2909-92A>G	ENSP00000418996.1:n.2909-92A>G
ENST00000482312.1:n.179A>G
ENST00000483004.1:c.478-92A>G
NM_001710.5:c.1856-92A>G , LRG_136t1:c.1856-92A>G	NP_001701.2:n.1856-92A>G
NM_001710.6:c.1856-92A>G MANE Select	NP_001701.2:n.1856-92A>G