Canonical Allele Identifier: CA2578573044

Gene: CFB

Linked Data

• gnomAD v4: 6-31950846-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950847del , CM000668.2:g.31950847del	GRCh38
NC_000006.11:g.31918624del , CM000668.1:g.31918624del	GRCh37
NC_000006.10:g.32026603del	NCBI36
NG_008191.1:g.9904del , LRG_136:g.9904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2245del
ENST00000483004.2:c.1563-21del	ENSP00000419887.2:n.1563-21del
ENST00000698628.1:c.1625-297del	ENSP00000513848.1:n.1625-297del
ENST00000698629.1:n.2030del
ENST00000698630.1:n.2495-21del
ENST00000698631.1:n.2496-21del
ENST00000698632.1:n.3364del
ENST00000698633.1:n.3254del
ENST00000425368.7:c.1779-21del MANE Select	ENSP00000416561.2:n.1779-21del
ENST00000425368.6:c.1779-21del	ENSP00000416561.2:n.1779-21del
ENST00000456570.5:c.3285-21del	ENSP00000410815.1:n.3285-21del
ENST00000467360.1:n.905-21del
ENST00000477310.1:c.2832-21del	ENSP00000418996.1:n.2832-21del
ENST00000483004.1:c.401-21del
NM_001710.5:c.1779-21del , LRG_136t1:c.1779-21del	NP_001701.2:n.1779-21del
NM_001710.6:c.1779-21del MANE Select	NP_001701.2:n.1779-21del