Canonical Allele Identifier: CA2678074465

Gene: CFB

Linked Data

• gnomAD v4: 6-31951086-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951086G>T , CM000668.2:g.31951086G>T	GRCh38
NC_000006.11:g.31918863G>T , CM000668.1:g.31918863G>T	GRCh37
NC_000006.10:g.32026842G>T	NCBI36
NG_008191.1:g.10143G>T , LRG_136:g.10143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-111G>T
ENST00000483004.2:c.1640-58G>T	ENSP00000419887.2:n.1640-58G>T
ENST00000698628.1:c.1625-58G>T	ENSP00000513848.1:n.1625-58G>T
ENST00000698629.1:n.2128-111G>T
ENST00000698630.1:n.2572-58G>T
ENST00000698631.1:n.2573-58G>T
ENST00000698632.1:n.3603G>T
ENST00000698633.1:n.3493G>T
ENST00000425368.7:c.1856-58G>T MANE Select	ENSP00000416561.2:n.1856-58G>T
ENST00000425368.6:c.1856-58G>T	ENSP00000416561.2:n.1856-58G>T
ENST00000456570.5:c.3362-58G>T	ENSP00000410815.1:n.3362-58G>T
ENST00000467360.1:n.982-58G>T
ENST00000477310.1:c.2909-58G>T	ENSP00000418996.1:n.2909-58G>T
ENST00000482312.1:n.213G>T
ENST00000483004.1:c.478-58G>T
NM_001710.5:c.1856-58G>T , LRG_136t1:c.1856-58G>T	NP_001701.2:n.1856-58G>T
NM_001710.6:c.1856-58G>T MANE Select	NP_001701.2:n.1856-58G>T