Canonical Allele Identifier: CA2678071980

Gene: CFB

Linked Data

• gnomAD v4: 6-31946275-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946277del , CM000668.2:g.31946277del	GRCh38
NC_000006.11:g.31914054del , CM000668.1:g.31914054del	GRCh37
NC_000006.10:g.32022033del	NCBI36
NG_008191.1:g.5334del , LRG_136:g.5334del
NG_011730.1:g.23789del , LRG_26:g.23789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.233del
ENST00000483004.2:c.56del	ENSP00000419887.2:p.Leu19CysfsTer5
ENST00000497841.6:c.56del	ENSP00000513847.1:p.Leu19CysfsTer5
ENST00000698628.1:c.56del	ENSP00000513848.1:p.Leu19CysfsTer5
ENST00000698629.1:n.233del
ENST00000698630.1:n.217del
ENST00000698631.1:n.212del
ENST00000698632.1:n.184del
ENST00000698633.1:n.154del
ENST00000698636.1:n.278del
ENST00000425368.7:c.56del MANE Select	ENSP00000416561.2:p.Leu19CysfsTer5
ENST00000425368.6:c.56del	ENSP00000416561.2:p.Leu19CysfsTer5
ENST00000452035.6:n.56del
ENST00000456570.5:c.1571-96del	ENSP00000410815.1:n.1571-96del
ENST00000460718.5:c.56del	ENSP00000417793.1:p.Leu19CysfsTer?
ENST00000472581.1:n.303del
ENST00000475617.5:c.56del	ENSP00000420090.1:p.Leu19CysfsTer5
ENST00000477310.1:c.1352-730del	ENSP00000418996.1:n.1352-730del
NM_001710.5:c.56del , LRG_136t1:c.56del	NP_001701.2:p.Leu19CysfsTer5
NM_001710.6:c.56del MANE Select	NP_001701.2:p.Leu19CysfsTer5