Canonical Allele Identifier: CA3728125

Gene: CFB

Linked Data

• ClinVar Variation Id: 356279
• ClinVar RCV Id: RCV000287217 ; RCV000405609 ; RCV001460839 ; RCV001328121 ; RCV002509371
• dbSNP Id: rs144812066
• ExAC: 6:31915584 A / C
• gnomAD v2: 6-31915584-A-C
• gnomAD v3: 6-31947807-A-C
• gnomAD v4: 6-31947807-A-C
• MyVariant Identifiers: chr6:g.31915584A>C (hg19) ; chr6:g.31947807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31947807A>C , CM000668.2:g.31947807A>C	GRCh38
NC_000006.11:g.31915584A>C , CM000668.1:g.31915584A>C	GRCh37
NC_000006.10:g.32023563A>C	NCBI36
NG_008191.1:g.6864A>C , LRG_136:g.6864A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.901A>C
ENST00000483004.2:c.724A>C	ENSP00000419887.2:p.Ile242Leu
ENST00000497841.6:c.724A>C	ENSP00000513847.1:p.Ile242Leu
ENST00000698628.1:c.724A>C	ENSP00000513848.1:p.Ile242Leu
ENST00000698629.1:n.901A>C
ENST00000698630.1:n.1440A>C
ENST00000698631.1:n.1280A>C
ENST00000698632.1:n.1627A>C
ENST00000698633.1:n.1442A>C
ENST00000698636.1:n.946A>C
ENST00000425368.7:c.724A>C MANE Select	ENSP00000416561.2:p.Ile242Leu
ENST00000425368.6:c.724A>C	ENSP00000416561.2:p.Ile242Leu
ENST00000452035.6:n.724A>C
ENST00000456570.5:c.2230A>C	ENSP00000410815.1:p.Ile744Leu
ENST00000460718.5:c.*350A>C	ENSP00000417793.1:n.*350A>C
ENST00000461483.5:n.307A>C
ENST00000477310.1:c.1777A>C	ENSP00000418996.1:p.Ile593Leu
ENST00000497841.5:n.11A>C
NM_001710.5:c.724A>C , LRG_136t1:c.724A>C	NP_001701.2:p.Ile242Leu
NM_001710.6:c.724A>C MANE Select	NP_001701.2:p.Ile242Leu