Canonical Allele Identifier: CA363408616

Gene: CFB

Linked Data

• ClinVar Variation Id: 2879851
• ClinVar RCV Id: RCV003712978
• dbSNP Id: rs745920524
• gnomAD v2: 6-31918407-C-T
• gnomAD v4: 6-31950630-C-T
• MyVariant Identifiers: chr6:g.31918407C>T (hg19) ; chr6:g.31950630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950630C>T , CM000668.2:g.31950630C>T	GRCh38
NC_000006.11:g.31918407C>T , CM000668.1:g.31918407C>T	GRCh37
NC_000006.10:g.32026386C>T	NCBI36
NG_008191.1:g.9687C>T , LRG_136:g.9687C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2028C>T
ENST00000483004.2:c.1420C>T	ENSP00000419887.2:p.Arg474Trp
ENST00000698628.1:c.1624+227C>T	ENSP00000513848.1:n.1624+227C>T
ENST00000698629.1:n.1813C>T
ENST00000698630.1:n.2352C>T
ENST00000698631.1:n.2353C>T
ENST00000698632.1:n.3147C>T
ENST00000698633.1:n.3037C>T
ENST00000698636.1:n.1858C>T
ENST00000425368.7:c.1636C>T MANE Select	ENSP00000416561.2:p.Arg546Trp
ENST00000425368.6:c.1636C>T	ENSP00000416561.2:p.Arg546Trp
ENST00000452035.6:n.1851C>T
ENST00000456570.5:c.3142C>T	ENSP00000410815.1:p.Arg1048Trp
ENST00000467360.1:n.762C>T
ENST00000477310.1:c.2689C>T	ENSP00000418996.1:p.Arg897Trp
ENST00000483004.1:c.258C>T
NM_001710.5:c.1636C>T , LRG_136t1:c.1636C>T	NP_001701.2:p.Arg546Trp
NM_001710.6:c.1636C>T MANE Select	NP_001701.2:p.Arg546Trp