Canonical Allele Identifier: CA3727944

Gene: CFB

Linked Data

• dbSNP Id: rs770320961
• ExAC: 6:31914089 G / A
• gnomAD v2: 6-31914089-G-A
• gnomAD v3: 6-31946312-G-A
• gnomAD v4: 6-31946312-G-A
• MyVariant Identifiers: chr6:g.31914089G>A (hg19) ; chr6:g.31946312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946312G>A , CM000668.2:g.31946312G>A	GRCh38
NC_000006.11:g.31914089G>A , CM000668.1:g.31914089G>A	GRCh37
NC_000006.10:g.32022068G>A	NCBI36
NG_008191.1:g.5369G>A , LRG_136:g.5369G>A
NG_011730.1:g.23824G>A , LRG_26:g.23824G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.241+27G>A
ENST00000483004.2:c.64+27G>A	ENSP00000419887.2:n.64+27G>A
ENST00000497841.6:c.64+27G>A	ENSP00000513847.1:n.64+27G>A
ENST00000698628.1:c.64+27G>A	ENSP00000513848.1:n.64+27G>A
ENST00000698629.1:n.241+27G>A
ENST00000698630.1:n.225+27G>A
ENST00000698631.1:n.220+27G>A
ENST00000698632.1:n.192+27G>A
ENST00000698633.1:n.162+27G>A
ENST00000698636.1:n.286+27G>A
ENST00000425368.7:c.64+27G>A MANE Select	ENSP00000416561.2:n.64+27G>A
ENST00000425368.6:c.64+27G>A	ENSP00000416561.2:n.64+27G>A
ENST00000452035.6:n.64+27G>A
ENST00000456570.5:c.1571-61G>A	ENSP00000410815.1:n.1571-61G>A
ENST00000460718.5:c.64+27G>A	ENSP00000417793.1:n.64+27G>A
ENST00000472581.1:n.311+27G>A
ENST00000475617.5:c.64+27G>A	ENSP00000420090.1:n.64+27G>A
ENST00000477310.1:c.1352-695G>A	ENSP00000418996.1:n.1352-695G>A
NM_001710.5:c.64+27G>A , LRG_136t1:c.64+27G>A	NP_001701.2:n.64+27G>A
NM_001710.6:c.64+27G>A MANE Select	NP_001701.2:n.64+27G>A