Canonical Allele Identifier: CA2678072775

Gene: CFB

Linked Data

• gnomAD v4: 6-31946738-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946738C>A , CM000668.2:g.31946738C>A	GRCh38
NC_000006.11:g.31914515C>A , CM000668.1:g.31914515C>A	GRCh37
NC_000006.10:g.32022494C>A	NCBI36
NG_008191.1:g.5795C>A , LRG_136:g.5795C>A
NG_011730.1:g.24250C>A , LRG_26:g.24250C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+132C>A
ENST00000483004.2:c.298+132C>A	ENSP00000419887.2:n.298+132C>A
ENST00000497841.6:c.298+132C>A	ENSP00000513847.1:n.298+132C>A
ENST00000698628.1:c.298+132C>A	ENSP00000513848.1:n.298+132C>A
ENST00000698629.1:n.475+132C>A
ENST00000698630.1:n.591C>A
ENST00000698631.1:n.586C>A
ENST00000698632.1:n.558C>A
ENST00000698633.1:n.528C>A
ENST00000698636.1:n.520+132C>A
ENST00000425368.7:c.298+132C>A MANE Select	ENSP00000416561.2:n.298+132C>A
ENST00000425368.6:c.298+132C>A	ENSP00000416561.2:n.298+132C>A
ENST00000452035.6:n.298+132C>A
ENST00000456570.5:c.1804+132C>A	ENSP00000410815.1:n.1804+132C>A
ENST00000460718.5:c.185+132C>A	ENSP00000417793.1:n.185+132C>A
ENST00000472581.1:n.677C>A
ENST00000475617.5:c.298+132C>A	ENSP00000420090.1:n.298+132C>A
ENST00000477310.1:c.1352-269C>A	ENSP00000418996.1:n.1352-269C>A
NM_001710.5:c.298+132C>A , LRG_136t1:c.298+132C>A	NP_001701.2:n.298+132C>A
NM_001710.6:c.298+132C>A MANE Select	NP_001701.2:n.298+132C>A