Canonical Allele Identifier: CA363389792

Gene: CFB

Linked Data

• ClinVar Variation Id: 1465761
• ClinVar RCV Id: RCV001990359
• dbSNP Id: rs1388855504
• gnomAD v2: 6-31914366-G-C
• gnomAD v4: 6-31946589-G-C
• MyVariant Identifiers: chr6:g.31914366G>C (hg19) ; chr6:g.31946589G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946589G>C , CM000668.2:g.31946589G>C	GRCh38
NC_000006.11:g.31914366G>C , CM000668.1:g.31914366G>C	GRCh37
NC_000006.10:g.32022345G>C	NCBI36
NG_008191.1:g.5646G>C , LRG_136:g.5646G>C
NG_011730.1:g.24101G>C , LRG_26:g.24101G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.458G>C
ENST00000483004.2:c.281G>C	ENSP00000419887.2:p.Arg94Thr
ENST00000497841.6:c.281G>C	ENSP00000513847.1:p.Arg94Thr
ENST00000698628.1:c.281G>C	ENSP00000513848.1:p.Arg94Thr
ENST00000698629.1:n.458G>C
ENST00000698630.1:n.442G>C
ENST00000698631.1:n.437G>C
ENST00000698632.1:n.409G>C
ENST00000698633.1:n.379G>C
ENST00000698636.1:n.503G>C
ENST00000425368.7:c.281G>C MANE Select	ENSP00000416561.2:p.Arg94Thr
ENST00000425368.6:c.281G>C	ENSP00000416561.2:p.Arg94Thr
ENST00000452035.6:n.281G>C
ENST00000456570.5:c.1787G>C	ENSP00000410815.1:p.Arg596Thr
ENST00000460718.5:c.168G>C	ENSP00000417793.1:p.Gln56His
ENST00000472581.1:n.528G>C
ENST00000475617.5:c.281G>C	ENSP00000420090.1:p.Arg94Thr
ENST00000477310.1:c.1352-418G>C	ENSP00000418996.1:n.1352-418G>C
NM_001710.5:c.281G>C , LRG_136t1:c.281G>C	NP_001701.2:p.Arg94Thr
NM_001710.6:c.281G>C MANE Select	NP_001701.2:p.Arg94Thr