Canonical Allele Identifier: CA823922876

Gene: CFB

Linked Data

• ClinVar Variation Id: 1524497
• ClinVar RCV Id: RCV002031762
• dbSNP Id: rs1304405440
• gnomAD v3: 6-31950707-AT-A
• gnomAD v4: 6-31950707-AT-A
• MyVariant Identifiers: chr6:g.31918485del (hg19) ; chr6:g.31950708del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950711del , CM000668.2:g.31950711del	GRCh38
NC_000006.11:g.31918488del , CM000668.1:g.31918488del	GRCh37
NC_000006.10:g.32026467del	NCBI36
NG_008191.1:g.9768del , LRG_136:g.9768del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2109del
ENST00000483004.2:c.1501del	ENSP00000419887.2:p.Tyr501MetfsTer7
ENST00000698628.1:c.1624+308del	ENSP00000513848.1:n.1624+308del
ENST00000698629.1:n.1894del
ENST00000698630.1:n.2433del
ENST00000698631.1:n.2434del
ENST00000698632.1:n.3228del
ENST00000698633.1:n.3118del
ENST00000698636.1:n.1939del
ENST00000425368.7:c.1717del MANE Select	ENSP00000416561.2:p.Tyr573MetfsTer7
ENST00000425368.6:c.1717del	ENSP00000416561.2:p.Tyr573MetfsTer7
ENST00000456570.5:c.3223del	ENSP00000410815.1:p.Tyr1075MetfsTer7
ENST00000467360.1:n.843del
ENST00000477310.1:c.2770del	ENSP00000418996.1:p.Tyr924MetfsTer7
ENST00000483004.1:c.339del
NM_001710.5:c.1717del , LRG_136t1:c.1717del	NP_001701.2:p.Tyr573MetfsTer7
NM_001710.6:c.1717del MANE Select	NP_001701.2:p.Tyr573MetfsTer7