Canonical Allele Identifier: CA2678074546

Gene: CFB

Linked Data

• gnomAD v4: 6-31951141-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951142del , CM000668.2:g.31951142del	GRCh38
NC_000006.11:g.31918919del , CM000668.1:g.31918919del	GRCh37
NC_000006.10:g.32026898del	NCBI36
NG_008191.1:g.10199del , LRG_136:g.10199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-55del
ENST00000483004.2:c.1640-2del	ENSP00000419887.2:n.1640-2del
ENST00000698628.1:c.1625-2del	ENSP00000513848.1:n.1625-2del
ENST00000698629.1:n.2128-55del
ENST00000698630.1:n.2572-2del
ENST00000698631.1:n.2573-2del
ENST00000698632.1:n.3659del
ENST00000698633.1:n.3549del
ENST00000425368.7:c.1856-2del MANE Select	ENSP00000416561.2:n.1856-2del
ENST00000425368.6:c.1856-2del	ENSP00000416561.2:n.1856-2del
ENST00000456570.5:c.3362-2del	ENSP00000410815.1:n.3362-2del
ENST00000467360.1:n.982-2del
ENST00000477310.1:c.2909-2del	ENSP00000418996.1:n.2909-2del
ENST00000482312.1:n.269del
ENST00000483004.1:c.478-2del
NM_001710.5:c.1856-2del , LRG_136t1:c.1856-2del	NP_001701.2:n.1856-2del
NM_001710.6:c.1856-2del MANE Select	NP_001701.2:n.1856-2del