Canonical Allele Identifier: CA136897196

Gene: CFB

Linked Data

• ClinVar Variation Id: 2634749
• ClinVar RCV Id: RCV003699092 ; RCV004552540
• dbSNP Id: rs1054553580
• gnomAD v4: 6-31950391-A-G
• MyVariant Identifiers: chr6:g.31918168A>G (hg19) ; chr6:g.31950391A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950391A>G , CM000668.2:g.31950391A>G	GRCh38
NC_000006.11:g.31918168A>G , CM000668.1:g.31918168A>G	GRCh37
NC_000006.10:g.32026147A>G	NCBI36
NG_008191.1:g.9448A>G , LRG_136:g.9448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1789A>G
ENST00000483004.2:c.1409-228A>G	ENSP00000419887.2:n.1409-228A>G
ENST00000698628.1:c.1612A>G	ENSP00000513848.1:p.Lys538Glu
ENST00000698629.1:n.1789A>G
ENST00000698630.1:n.2328A>G
ENST00000698631.1:n.2329A>G
ENST00000698632.1:n.2908A>G
ENST00000698633.1:n.2798A>G
ENST00000698636.1:n.1834A>G
ENST00000425368.7:c.1612A>G MANE Select	ENSP00000416561.2:p.Lys538Glu
ENST00000425368.6:c.1612A>G	ENSP00000416561.2:p.Lys538Glu
ENST00000452035.6:n.1612A>G
ENST00000456570.5:c.3118A>G	ENSP00000410815.1:p.Lys1040Glu
ENST00000467360.1:n.523A>G
ENST00000477310.1:c.2665A>G	ENSP00000418996.1:p.Lys889Glu
ENST00000483004.1:c.247-228A>G
NM_001710.5:c.1612A>G , LRG_136t1:c.1612A>G	NP_001701.2:p.Lys538Glu
NM_001710.6:c.1612A>G MANE Select	NP_001701.2:p.Lys538Glu