Canonical Allele Identifier: CA363409022

Gene: CFB

Linked Data

• dbSNP Id: rs1480218934
• gnomAD v2: 6-31918482-G-A
• gnomAD v3: 6-31950705-G-A
• gnomAD v4: 6-31950705-G-A
• MyVariant Identifiers: chr6:g.31918482G>A (hg19) ; chr6:g.31950705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950705G>A , CM000668.2:g.31950705G>A	GRCh38
NC_000006.11:g.31918482G>A , CM000668.1:g.31918482G>A	GRCh37
NC_000006.10:g.32026461G>A	NCBI36
NG_008191.1:g.9762G>A , LRG_136:g.9762G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2103G>A
ENST00000483004.2:c.1495G>A	ENSP00000419887.2:p.Glu499Lys
ENST00000698628.1:c.1624+302G>A	ENSP00000513848.1:n.1624+302G>A
ENST00000698629.1:n.1888G>A
ENST00000698630.1:n.2427G>A
ENST00000698631.1:n.2428G>A
ENST00000698632.1:n.3222G>A
ENST00000698633.1:n.3112G>A
ENST00000698636.1:n.1933G>A
ENST00000425368.7:c.1711G>A MANE Select	ENSP00000416561.2:p.Glu571Lys
ENST00000425368.6:c.1711G>A	ENSP00000416561.2:p.Glu571Lys
ENST00000456570.5:c.3217G>A	ENSP00000410815.1:p.Glu1073Lys
ENST00000467360.1:n.837G>A
ENST00000477310.1:c.2764G>A	ENSP00000418996.1:p.Glu922Lys
ENST00000483004.1:c.333G>A
NM_001710.5:c.1711G>A , LRG_136t1:c.1711G>A	NP_001701.2:p.Glu571Lys
NM_001710.6:c.1711G>A MANE Select	NP_001701.2:p.Glu571Lys