Canonical Allele Identifier: CA3728412

Gene: CFB

Linked Data

• dbSNP Id: rs371630862
• ExAC: 6:31918359 T / G
• gnomAD v2: 6-31918359-T-G
• gnomAD v3: 6-31950582-T-G
• gnomAD v4: 6-31950582-T-G
• MyVariant Identifiers: chr6:g.31918359T>G (hg19) ; chr6:g.31950582T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950582T>G , CM000668.2:g.31950582T>G	GRCh38
NC_000006.11:g.31918359T>G , CM000668.1:g.31918359T>G	GRCh37
NC_000006.10:g.32026338T>G	NCBI36
NG_008191.1:g.9639T>G , LRG_136:g.9639T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1980T>G
ENST00000483004.2:c.1409-37T>G	ENSP00000419887.2:n.1409-37T>G
ENST00000698628.1:c.1624+179T>G	ENSP00000513848.1:n.1624+179T>G
ENST00000698629.1:n.1802-37T>G
ENST00000698630.1:n.2341-37T>G
ENST00000698631.1:n.2342-37T>G
ENST00000698632.1:n.3099T>G
ENST00000698633.1:n.2989T>G
ENST00000698636.1:n.1847-37T>G
ENST00000425368.7:c.1625-37T>G MANE Select	ENSP00000416561.2:n.1625-37T>G
ENST00000425368.6:c.1625-37T>G	ENSP00000416561.2:n.1625-37T>G
ENST00000452035.6:n.1803T>G
ENST00000456570.5:c.3131-37T>G	ENSP00000410815.1:n.3131-37T>G
ENST00000467360.1:n.714T>G
ENST00000477310.1:c.2678-37T>G	ENSP00000418996.1:n.2678-37T>G
ENST00000483004.1:c.247-37T>G
NM_001710.5:c.1625-37T>G , LRG_136t1:c.1625-37T>G	NP_001701.2:n.1625-37T>G
NM_001710.6:c.1625-37T>G MANE Select	NP_001701.2:n.1625-37T>G