Canonical Allele Identifier: CA1619378853

Gene: CFB

Linked Data

• dbSNP Id: rs1771728866
• gnomAD v4: 6-31951046-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951047del , CM000668.2:g.31951047del	GRCh38
NC_000006.11:g.31918824del , CM000668.1:g.31918824del	GRCh37
NC_000006.10:g.32026803del	NCBI36
NG_008191.1:g.10104del , LRG_136:g.10104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+103del
ENST00000483004.2:c.1640-97del	ENSP00000419887.2:n.1640-97del
ENST00000698628.1:c.1625-97del	ENSP00000513848.1:n.1625-97del
ENST00000698629.1:n.2127+103del
ENST00000698630.1:n.2572-97del
ENST00000698631.1:n.2573-97del
ENST00000698632.1:n.3564del
ENST00000698633.1:n.3454del
ENST00000425368.7:c.1856-97del MANE Select	ENSP00000416561.2:n.1856-97del
ENST00000425368.6:c.1856-97del	ENSP00000416561.2:n.1856-97del
ENST00000456570.5:c.3362-97del	ENSP00000410815.1:n.3362-97del
ENST00000467360.1:n.982-97del
ENST00000477310.1:c.2909-97del	ENSP00000418996.1:n.2909-97del
ENST00000482312.1:n.174del
ENST00000483004.1:c.478-97del
NM_001710.5:c.1856-97del , LRG_136t1:c.1856-97del	NP_001701.2:n.1856-97del
NM_001710.6:c.1856-97del MANE Select	NP_001701.2:n.1856-97del