Canonical Allele Identifier: CA2678073628

Gene: CFB

Linked Data

• gnomAD v4: 6-31950434-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950436del , CM000668.2:g.31950436del	GRCh38
NC_000006.11:g.31918213del , CM000668.1:g.31918213del	GRCh37
NC_000006.10:g.32026192del	NCBI36
NG_008191.1:g.9493del , LRG_136:g.9493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1834del
ENST00000483004.2:c.1409-183del	ENSP00000419887.2:n.1409-183del
ENST00000698628.1:c.1624+33del	ENSP00000513848.1:n.1624+33del
ENST00000698629.1:n.1801+33del
ENST00000698630.1:n.2340+33del
ENST00000698631.1:n.2341+33del
ENST00000698632.1:n.2953del
ENST00000698633.1:n.2843del
ENST00000698636.1:n.1846+33del
ENST00000425368.7:c.1624+33del MANE Select	ENSP00000416561.2:n.1624+33del
ENST00000425368.6:c.1624+33del	ENSP00000416561.2:n.1624+33del
ENST00000452035.6:n.1657del
ENST00000456570.5:c.3130+33del	ENSP00000410815.1:n.3130+33del
ENST00000467360.1:n.568del
ENST00000477310.1:c.2677+33del	ENSP00000418996.1:n.2677+33del
ENST00000483004.1:c.247-183del
NM_001710.5:c.1624+33del , LRG_136t1:c.1624+33del	NP_001701.2:n.1624+33del
NM_001710.6:c.1624+33del MANE Select	NP_001701.2:n.1624+33del