Canonical Allele Identifier: CA363408952

Gene: CFB

Linked Data

• ClinVar Variation Id: 1491824
• ClinVar RCV Id: RCV001988922
• dbSNP Id: rs1261568530
• gnomAD v4: 6-31950690-G-A
• MyVariant Identifiers: chr6:g.31918467G>A (hg19) ; chr6:g.31950690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950690G>A , CM000668.2:g.31950690G>A	GRCh38
NC_000006.11:g.31918467G>A , CM000668.1:g.31918467G>A	GRCh37
NC_000006.10:g.32026446G>A	NCBI36
NG_008191.1:g.9747G>A , LRG_136:g.9747G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2088G>A
ENST00000483004.2:c.1480G>A	ENSP00000419887.2:p.Glu494Lys
ENST00000698628.1:c.1624+287G>A	ENSP00000513848.1:n.1624+287G>A
ENST00000698629.1:n.1873G>A
ENST00000698630.1:n.2412G>A
ENST00000698631.1:n.2413G>A
ENST00000698632.1:n.3207G>A
ENST00000698633.1:n.3097G>A
ENST00000698636.1:n.1918G>A
ENST00000425368.7:c.1696G>A MANE Select	ENSP00000416561.2:p.Glu566Lys
ENST00000425368.6:c.1696G>A	ENSP00000416561.2:p.Glu566Lys
ENST00000456570.5:c.3202G>A	ENSP00000410815.1:p.Glu1068Lys
ENST00000467360.1:n.822G>A
ENST00000477310.1:c.2749G>A	ENSP00000418996.1:p.Glu917Lys
ENST00000483004.1:c.318G>A
NM_001710.5:c.1696G>A , LRG_136t1:c.1696G>A	NP_001701.2:p.Glu566Lys
NM_001710.6:c.1696G>A MANE Select	NP_001701.2:p.Glu566Lys