Canonical Allele Identifier: CA449687073

Gene: CFB

Linked Data

• ClinVar Variation Id: 907232
• ClinVar RCV Id: RCV001156912 ; RCV001156913
• dbSNP Id: rs377025675
• MyVariant Identifiers: chr6:g.31918669G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950892G>A , CM000668.2:g.31950892G>A	GRCh38
NC_000006.11:g.31918669G>A , CM000668.1:g.31918669G>A	GRCh37
NC_000006.10:g.32026648G>A	NCBI36
NG_008191.1:g.9949G>A , LRG_136:g.9949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2290G>A
ENST00000483004.2:c.1587G>A	ENSP00000419887.2:p.Glu529=
ENST00000698628.1:c.1625-252G>A	ENSP00000513848.1:n.1625-252G>A
ENST00000698629.1:n.2075G>A
ENST00000698630.1:n.2519G>A
ENST00000698631.1:n.2520G>A
ENST00000698632.1:n.3409G>A
ENST00000698633.1:n.3299G>A
ENST00000425368.7:c.1803G>A MANE Select	ENSP00000416561.2:p.Glu601=
ENST00000425368.6:c.1803G>A	ENSP00000416561.2:p.Glu601=
ENST00000456570.5:c.3309G>A	ENSP00000410815.1:p.Glu1103=
ENST00000467360.1:n.929G>A
ENST00000477310.1:c.2856G>A	ENSP00000418996.1:p.Glu952=
ENST00000482312.1:n.19G>A
ENST00000483004.1:c.425G>A
NM_001710.5:c.1803G>A , LRG_136t1:c.1803G>A	NP_001701.2:p.Glu601=
NM_001710.6:c.1803G>A MANE Select	NP_001701.2:p.Glu601=