Canonical Allele Identifier: CA917713347

Gene: CFB

Linked Data

• dbSNP Id: rs1554284806

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946404del , CM000668.2:g.31946404del	GRCh38
NC_000006.11:g.31914181del , CM000668.1:g.31914181del	GRCh37
NC_000006.10:g.32022160del	NCBI36
NG_008191.1:g.5461del , LRG_136:g.5461del
NG_011730.1:g.23916del , LRG_26:g.23916del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.273del
ENST00000483004.2:c.96del	ENSP00000419887.2:p.Gln34ArgfsTer9
ENST00000497841.6:c.96del	ENSP00000513847.1:p.Gln34ArgfsTer9
ENST00000698628.1:c.96del	ENSP00000513848.1:p.Gln34ArgfsTer9
ENST00000698629.1:n.273del
ENST00000698630.1:n.257del
ENST00000698631.1:n.252del
ENST00000698632.1:n.224del
ENST00000698633.1:n.194del
ENST00000698636.1:n.318del
ENST00000425368.7:c.96del MANE Select	ENSP00000416561.2:p.Gln34ArgfsTer9
ENST00000425368.6:c.96del	ENSP00000416561.2:p.Gln34ArgfsTer9
ENST00000452035.6:n.96del
ENST00000456570.5:c.1602del	ENSP00000410815.1:p.Gln536ArgfsTer9
ENST00000460718.5:c.65-82del	ENSP00000417793.1:n.65-82del
ENST00000472581.1:n.343del
ENST00000475617.5:c.96del	ENSP00000420090.1:p.Gln34ArgfsTer9
ENST00000477310.1:c.1352-603del	ENSP00000418996.1:n.1352-603del
NM_001710.5:c.96del , LRG_136t1:c.96del	NP_001701.2:p.Gln34ArgfsTer9
NM_001710.6:c.96del MANE Select	NP_001701.2:p.Gln34ArgfsTer9