Canonical Allele Identifier: CA136897672

Gene: CFB

Linked Data

• ClinVar Variation Id: 1488403
• ClinVar RCV Id: RCV001976996
• dbSNP Id: rs999669276
• gnomAD v2: 6-31918412-C-G
• gnomAD v3: 6-31950635-C-G
• gnomAD v4: 6-31950635-C-G
• MyVariant Identifiers: chr6:g.31918412C>G (hg19) ; chr6:g.31950635C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950635C>G , CM000668.2:g.31950635C>G	GRCh38
NC_000006.11:g.31918412C>G , CM000668.1:g.31918412C>G	GRCh37
NC_000006.10:g.32026391C>G	NCBI36
NG_008191.1:g.9692C>G , LRG_136:g.9692C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2033C>G
ENST00000483004.2:c.1425C>G	ENSP00000419887.2:p.Asp475Glu
ENST00000698628.1:c.1624+232C>G	ENSP00000513848.1:n.1624+232C>G
ENST00000698629.1:n.1818C>G
ENST00000698630.1:n.2357C>G
ENST00000698631.1:n.2358C>G
ENST00000698632.1:n.3152C>G
ENST00000698633.1:n.3042C>G
ENST00000698636.1:n.1863C>G
ENST00000425368.7:c.1641C>G MANE Select	ENSP00000416561.2:p.Asp547Glu
ENST00000425368.6:c.1641C>G	ENSP00000416561.2:p.Asp547Glu
ENST00000452035.6:n.1856C>G
ENST00000456570.5:c.3147C>G	ENSP00000410815.1:p.Asp1049Glu
ENST00000467360.1:n.767C>G
ENST00000477310.1:c.2694C>G	ENSP00000418996.1:p.Asp898Glu
ENST00000483004.1:c.263C>G
NM_001710.5:c.1641C>G , LRG_136t1:c.1641C>G	NP_001701.2:p.Asp547Glu
NM_001710.6:c.1641C>G MANE Select	NP_001701.2:p.Asp547Glu