Canonical Allele Identifier: CA449811788

Gene: CFB

Linked Data

• dbSNP Id: rs1329514987
• gnomAD v2: 6-31914247-G-A
• gnomAD v4: 6-31946470-G-A
• MyVariant Identifiers: chr6:g.31914247G>A (hg19) ; chr6:g.31946470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946470G>A , CM000668.2:g.31946470G>A	GRCh38
NC_000006.11:g.31914247G>A , CM000668.1:g.31914247G>A	GRCh37
NC_000006.10:g.32022226G>A	NCBI36
NG_008191.1:g.5527G>A , LRG_136:g.5527G>A
NG_011730.1:g.23982G>A , LRG_26:g.23982G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.339G>A
ENST00000483004.2:c.162G>A	ENSP00000419887.2:p.Glu54=
ENST00000497841.6:c.162G>A	ENSP00000513847.1:p.Glu54=
ENST00000698628.1:c.162G>A	ENSP00000513848.1:p.Glu54=
ENST00000698629.1:n.339G>A
ENST00000698630.1:n.323G>A
ENST00000698631.1:n.318G>A
ENST00000698632.1:n.290G>A
ENST00000698633.1:n.260G>A
ENST00000698636.1:n.384G>A
ENST00000425368.7:c.162G>A MANE Select	ENSP00000416561.2:p.Glu54=
ENST00000425368.6:c.162G>A	ENSP00000416561.2:p.Glu54=
ENST00000452035.6:n.162G>A
ENST00000456570.5:c.1668G>A	ENSP00000410815.1:p.Glu556=
ENST00000460718.5:c.65-16G>A	ENSP00000417793.1:n.65-16G>A
ENST00000472581.1:n.409G>A
ENST00000475617.5:c.162G>A	ENSP00000420090.1:p.Glu54=
ENST00000477310.1:c.1352-537G>A	ENSP00000418996.1:n.1352-537G>A
NM_001710.5:c.162G>A , LRG_136t1:c.162G>A	NP_001701.2:p.Glu54=
NM_001710.6:c.162G>A MANE Select	NP_001701.2:p.Glu54=