Canonical Allele Identifier: CA1087492797

Gene: CFB

Linked Data

• dbSNP Id: rs1771728586
• gnomAD v3: 6-31951044-C-A
• gnomAD v4: 6-31951044-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951044C>A , CM000668.2:g.31951044C>A	GRCh38
NC_000006.11:g.31918821C>A , CM000668.1:g.31918821C>A	GRCh37
NC_000006.10:g.32026800C>A	NCBI36
NG_008191.1:g.10101C>A , LRG_136:g.10101C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+100C>A
ENST00000483004.2:c.1640-100C>A	ENSP00000419887.2:n.1640-100C>A
ENST00000698628.1:c.1625-100C>A	ENSP00000513848.1:n.1625-100C>A
ENST00000698629.1:n.2127+100C>A
ENST00000698630.1:n.2572-100C>A
ENST00000698631.1:n.2573-100C>A
ENST00000698632.1:n.3561C>A
ENST00000698633.1:n.3451C>A
ENST00000425368.7:c.1856-100C>A MANE Select	ENSP00000416561.2:n.1856-100C>A
ENST00000425368.6:c.1856-100C>A	ENSP00000416561.2:n.1856-100C>A
ENST00000456570.5:c.3362-100C>A	ENSP00000410815.1:n.3362-100C>A
ENST00000467360.1:n.982-100C>A
ENST00000477310.1:c.2909-100C>A	ENSP00000418996.1:n.2909-100C>A
ENST00000482312.1:n.171C>A
ENST00000483004.1:c.478-100C>A
NM_001710.5:c.1856-100C>A , LRG_136t1:c.1856-100C>A	NP_001701.2:n.1856-100C>A
NM_001710.6:c.1856-100C>A MANE Select	NP_001701.2:n.1856-100C>A