Canonical Allele Identifier: CA3728420

Gene: CFB

Linked Data

• ClinVar Variation Id: 1360546
• ClinVar RCV Id: RCV001864983
• dbSNP Id: rs769826070
• ExAC: 6:31918408 G / A
• gnomAD v2: 6-31918408-G-A
• gnomAD v3: 6-31950631-G-A
• gnomAD v4: 6-31950631-G-A
• MyVariant Identifiers: chr6:g.31918408G>A (hg19) ; chr6:g.31950631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950631G>A , CM000668.2:g.31950631G>A	GRCh38
NC_000006.11:g.31918408G>A , CM000668.1:g.31918408G>A	GRCh37
NC_000006.10:g.32026387G>A	NCBI36
NG_008191.1:g.9688G>A , LRG_136:g.9688G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2029G>A
ENST00000483004.2:c.1421G>A	ENSP00000419887.2:p.Arg474Gln
ENST00000698628.1:c.1624+228G>A	ENSP00000513848.1:n.1624+228G>A
ENST00000698629.1:n.1814G>A
ENST00000698630.1:n.2353G>A
ENST00000698631.1:n.2354G>A
ENST00000698632.1:n.3148G>A
ENST00000698633.1:n.3038G>A
ENST00000698636.1:n.1859G>A
ENST00000425368.7:c.1637G>A MANE Select	ENSP00000416561.2:p.Arg546Gln
ENST00000425368.6:c.1637G>A	ENSP00000416561.2:p.Arg546Gln
ENST00000452035.6:n.1852G>A
ENST00000456570.5:c.3143G>A	ENSP00000410815.1:p.Arg1048Gln
ENST00000467360.1:n.763G>A
ENST00000477310.1:c.2690G>A	ENSP00000418996.1:p.Arg897Gln
ENST00000483004.1:c.259G>A
NM_001710.5:c.1637G>A , LRG_136t1:c.1637G>A	NP_001701.2:p.Arg546Gln
NM_001710.6:c.1637G>A MANE Select	NP_001701.2:p.Arg546Gln