Canonical Allele Identifier: CA2578573016

Gene: CFB

Linked Data

• gnomAD v4: 6-31950446-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950446C>A , CM000668.2:g.31950446C>A	GRCh38
NC_000006.11:g.31918223C>A , CM000668.1:g.31918223C>A	GRCh37
NC_000006.10:g.32026202C>A	NCBI36
NG_008191.1:g.9503C>A , LRG_136:g.9503C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1844C>A
ENST00000483004.2:c.1409-173C>A	ENSP00000419887.2:n.1409-173C>A
ENST00000698628.1:c.1624+43C>A	ENSP00000513848.1:n.1624+43C>A
ENST00000698629.1:n.1801+43C>A
ENST00000698630.1:n.2340+43C>A
ENST00000698631.1:n.2341+43C>A
ENST00000698632.1:n.2963C>A
ENST00000698633.1:n.2853C>A
ENST00000698636.1:n.1846+43C>A
ENST00000425368.7:c.1624+43C>A MANE Select	ENSP00000416561.2:n.1624+43C>A
ENST00000425368.6:c.1624+43C>A	ENSP00000416561.2:n.1624+43C>A
ENST00000452035.6:n.1667C>A
ENST00000456570.5:c.3130+43C>A	ENSP00000410815.1:n.3130+43C>A
ENST00000467360.1:n.578C>A
ENST00000477310.1:c.2677+43C>A	ENSP00000418996.1:n.2677+43C>A
ENST00000483004.1:c.247-173C>A
NM_001710.5:c.1624+43C>A , LRG_136t1:c.1624+43C>A	NP_001701.2:n.1624+43C>A
NM_001710.6:c.1624+43C>A MANE Select	NP_001701.2:n.1624+43C>A