Canonical Allele Identifier: CA2678074273

Gene: CFB

Linked Data

• gnomAD v4: 6-31950796-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950799del , CM000668.2:g.31950799del	GRCh38
NC_000006.11:g.31918576del , CM000668.1:g.31918576del	GRCh37
NC_000006.10:g.32026555del	NCBI36
NG_008191.1:g.9856del , LRG_136:g.9856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2197del
ENST00000483004.2:c.1562+27del	ENSP00000419887.2:n.1562+27del
ENST00000698628.1:c.1625-345del	ENSP00000513848.1:n.1625-345del
ENST00000698629.1:n.1982del
ENST00000698630.1:n.2494+27del
ENST00000698631.1:n.2495+27del
ENST00000698632.1:n.3316del
ENST00000698633.1:n.3206del
ENST00000425368.7:c.1778+27del MANE Select	ENSP00000416561.2:n.1778+27del
ENST00000425368.6:c.1778+27del	ENSP00000416561.2:n.1778+27del
ENST00000456570.5:c.3284+27del	ENSP00000410815.1:n.3284+27del
ENST00000467360.1:n.904+27del
ENST00000477310.1:c.2831+27del	ENSP00000418996.1:n.2831+27del
ENST00000483004.1:c.400+27del
NM_001710.5:c.1778+27del , LRG_136t1:c.1778+27del	NP_001701.2:n.1778+27del
NM_001710.6:c.1778+27del MANE Select	NP_001701.2:n.1778+27del