Canonical Allele Identifier: CA136897685

Gene: CFB

Linked Data

• ClinVar Variation Id: 1973954
• ClinVar RCV Id: RCV002741100
• dbSNP Id: rs990231954
• gnomAD v3: 6-31950639-G-C
• gnomAD v4: 6-31950639-G-C
• MyVariant Identifiers: chr6:g.31918416G>C (hg19) ; chr6:g.31950639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950639G>C , CM000668.2:g.31950639G>C	GRCh38
NC_000006.11:g.31918416G>C , CM000668.1:g.31918416G>C	GRCh37
NC_000006.10:g.32026395G>C	NCBI36
NG_008191.1:g.9696G>C , LRG_136:g.9696G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2037G>C
ENST00000483004.2:c.1429G>C	ENSP00000419887.2:p.Glu477Gln
ENST00000698628.1:c.1624+236G>C	ENSP00000513848.1:n.1624+236G>C
ENST00000698629.1:n.1822G>C
ENST00000698630.1:n.2361G>C
ENST00000698631.1:n.2362G>C
ENST00000698632.1:n.3156G>C
ENST00000698633.1:n.3046G>C
ENST00000698636.1:n.1867G>C
ENST00000425368.7:c.1645G>C MANE Select	ENSP00000416561.2:p.Glu549Gln
ENST00000425368.6:c.1645G>C	ENSP00000416561.2:p.Glu549Gln
ENST00000452035.6:n.1860G>C
ENST00000456570.5:c.3151G>C	ENSP00000410815.1:p.Glu1051Gln
ENST00000467360.1:n.771G>C
ENST00000477310.1:c.2698G>C	ENSP00000418996.1:p.Glu900Gln
ENST00000483004.1:c.267G>C
NM_001710.5:c.1645G>C , LRG_136t1:c.1645G>C	NP_001701.2:p.Glu549Gln
NM_001710.6:c.1645G>C MANE Select	NP_001701.2:p.Glu549Gln