Canonical Allele Identifier: CA2678071925

Gene: CFB

Linked Data

• gnomAD v4: 6-31946238-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946243dup , CM000668.2:g.31946243dup	GRCh38
NC_000006.11:g.31914020dup , CM000668.1:g.31914020dup	GRCh37
NC_000006.10:g.32021999dup	NCBI36
NG_008191.1:g.5300dup , LRG_136:g.5300dup
NG_011730.1:g.23755dup , LRG_26:g.23755dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.199dup
ENST00000483004.2:c.22dup	ENSP00000419887.2:p.Gln8ProfsTer?
ENST00000497841.6:c.22dup	ENSP00000513847.1:p.Gln8ProfsTer?
ENST00000698628.1:c.22dup	ENSP00000513848.1:p.Gln8ProfsTer?
ENST00000698629.1:n.199dup
ENST00000698630.1:n.183dup
ENST00000698631.1:n.178dup
ENST00000698632.1:n.150dup
ENST00000698633.1:n.120dup
ENST00000698636.1:n.244dup
ENST00000425368.7:c.22dup MANE Select	ENSP00000416561.2:p.Gln8ProfsTer?
ENST00000425368.6:c.22dup	ENSP00000416561.2:p.Gln8ProfsTer?
ENST00000452035.6:n.22dup
ENST00000456570.5:c.1571-130dup	ENSP00000410815.1:n.1571-130dup
ENST00000460718.5:c.22dup	ENSP00000417793.1:p.Gln8ProfsTer?
ENST00000472581.1:n.269dup
ENST00000475617.5:c.22dup	ENSP00000420090.1:p.Gln8ProfsTer?
ENST00000477310.1:c.1352-764dup	ENSP00000418996.1:n.1352-764dup
NM_001710.5:c.22dup , LRG_136t1:c.22dup	NP_001701.2:p.Gln8ProfsTer?
NM_001710.6:c.22dup MANE Select	NP_001701.2:p.Gln8ProfsTer?