Canonical Allele Identifier: CA3728418

Gene: CFB

Linked Data

• ClinVar Variation Id: 2819674
• ClinVar RCV Id: RCV003706400
• dbSNP Id: rs756777734
• ExAC: 6:31918399 GGGA / G
• gnomAD v2: 6-31918399-GGGA-G
• gnomAD v4: 6-31950622-GGGA-G
• MyVariant Identifiers: chr6:g.31918400_31918402del (hg19) ; chr6:g.31950623_31950625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950624_31950626del , CM000668.2:g.31950624_31950626del	GRCh38
NC_000006.11:g.31918401_31918403del , CM000668.1:g.31918401_31918403del	GRCh37
NC_000006.10:g.32026380_32026382del	NCBI36
NG_008191.1:g.9681_9683del , LRG_136:g.9681_9683del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2022_2024del
ENST00000483004.2:c.1414_1416del	ENSP00000419887.2:p.Glu472del
ENST00000698628.1:c.1624+221_1624+223del	ENSP00000513848.1:n.1624+221_1624+223del
ENST00000698629.1:n.1807_1809del
ENST00000698630.1:n.2346_2348del
ENST00000698631.1:n.2347_2349del
ENST00000698632.1:n.3141_3143del
ENST00000698633.1:n.3031_3033del
ENST00000698636.1:n.1852_1854del
ENST00000425368.7:c.1630_1632del MANE Select	ENSP00000416561.2:p.Glu544del
ENST00000425368.6:c.1630_1632del	ENSP00000416561.2:p.Glu544del
ENST00000452035.6:n.1845_1847del
ENST00000456570.5:c.3136_3138del	ENSP00000410815.1:p.Glu1046del
ENST00000467360.1:n.756_758del
ENST00000477310.1:c.2683_2685del	ENSP00000418996.1:p.Glu895del
ENST00000483004.1:c.252_254del
NM_001710.5:c.1630_1632del , LRG_136t1:c.1630_1632del	NP_001701.2:p.Glu544del
NM_001710.6:c.1630_1632del MANE Select	NP_001701.2:p.Glu544del