Canonical Allele Identifier: CA2678074506

Gene: CFB

Linked Data

• gnomAD v4: 6-31951117-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951117C>T , CM000668.2:g.31951117C>T	GRCh38
NC_000006.11:g.31918894C>T , CM000668.1:g.31918894C>T	GRCh37
NC_000006.10:g.32026873C>T	NCBI36
NG_008191.1:g.10174C>T , LRG_136:g.10174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-80C>T
ENST00000483004.2:c.1640-27C>T	ENSP00000419887.2:n.1640-27C>T
ENST00000698628.1:c.1625-27C>T	ENSP00000513848.1:n.1625-27C>T
ENST00000698629.1:n.2128-80C>T
ENST00000698630.1:n.2572-27C>T
ENST00000698631.1:n.2573-27C>T
ENST00000698632.1:n.3634C>T
ENST00000698633.1:n.3524C>T
ENST00000425368.7:c.1856-27C>T MANE Select	ENSP00000416561.2:n.1856-27C>T
ENST00000425368.6:c.1856-27C>T	ENSP00000416561.2:n.1856-27C>T
ENST00000456570.5:c.3362-27C>T	ENSP00000410815.1:n.3362-27C>T
ENST00000467360.1:n.982-27C>T
ENST00000477310.1:c.2909-27C>T	ENSP00000418996.1:n.2909-27C>T
ENST00000482312.1:n.244C>T
ENST00000483004.1:c.478-27C>T
NM_001710.5:c.1856-27C>T , LRG_136t1:c.1856-27C>T	NP_001701.2:n.1856-27C>T
NM_001710.6:c.1856-27C>T MANE Select	NP_001701.2:n.1856-27C>T