Canonical Allele Identifier: CA3728458

Gene: CFB

Linked Data

• dbSNP Id: rs756325732
• ExAC: 6:31918667 G / A
• gnomAD v2: 6-31918667-G-A
• gnomAD v3: 6-31950890-G-A
• gnomAD v4: 6-31950890-G-A
• MyVariant Identifiers: chr6:g.31918667G>A (hg19) ; chr6:g.31950890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950890G>A , CM000668.2:g.31950890G>A	GRCh38
NC_000006.11:g.31918667G>A , CM000668.1:g.31918667G>A	GRCh37
NC_000006.10:g.32026646G>A	NCBI36
NG_008191.1:g.9947G>A , LRG_136:g.9947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2288G>A
ENST00000483004.2:c.1585G>A	ENSP00000419887.2:p.Glu529Lys
ENST00000698628.1:c.1625-254G>A	ENSP00000513848.1:n.1625-254G>A
ENST00000698629.1:n.2073G>A
ENST00000698630.1:n.2517G>A
ENST00000698631.1:n.2518G>A
ENST00000698632.1:n.3407G>A
ENST00000698633.1:n.3297G>A
ENST00000425368.7:c.1801G>A MANE Select	ENSP00000416561.2:p.Glu601Lys
ENST00000425368.6:c.1801G>A	ENSP00000416561.2:p.Glu601Lys
ENST00000456570.5:c.3307G>A	ENSP00000410815.1:p.Glu1103Lys
ENST00000467360.1:n.927G>A
ENST00000477310.1:c.2854G>A	ENSP00000418996.1:p.Glu952Lys
ENST00000482312.1:n.17G>A
ENST00000483004.1:c.423G>A
NM_001710.5:c.1801G>A , LRG_136t1:c.1801G>A	NP_001701.2:p.Glu601Lys
NM_001710.6:c.1801G>A MANE Select	NP_001701.2:p.Glu601Lys