Canonical Allele Identifier: CA363408846

Gene: CFB

Linked Data

• gnomAD v4: 6-31950672-A-G
• MyVariant Identifiers: chr6:g.31918449A>G (hg19) ; chr6:g.31950672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950672A>G , CM000668.2:g.31950672A>G	GRCh38
NC_000006.11:g.31918449A>G , CM000668.1:g.31918449A>G	GRCh37
NC_000006.10:g.32026428A>G	NCBI36
NG_008191.1:g.9729A>G , LRG_136:g.9729A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2070A>G
ENST00000483004.2:c.1462A>G	ENSP00000419887.2:p.Asn488Asp
ENST00000698628.1:c.1624+269A>G	ENSP00000513848.1:n.1624+269A>G
ENST00000698629.1:n.1855A>G
ENST00000698630.1:n.2394A>G
ENST00000698631.1:n.2395A>G
ENST00000698632.1:n.3189A>G
ENST00000698633.1:n.3079A>G
ENST00000698636.1:n.1900A>G
ENST00000425368.7:c.1678A>G MANE Select	ENSP00000416561.2:p.Asn560Asp
ENST00000425368.6:c.1678A>G	ENSP00000416561.2:p.Asn560Asp
ENST00000456570.5:c.3184A>G	ENSP00000410815.1:p.Asn1062Asp
ENST00000467360.1:n.804A>G
ENST00000477310.1:c.2731A>G	ENSP00000418996.1:p.Asn911Asp
ENST00000483004.1:c.300A>G
NM_001710.5:c.1678A>G , LRG_136t1:c.1678A>G	NP_001701.2:p.Asn560Asp
NM_001710.6:c.1678A>G MANE Select	NP_001701.2:p.Asn560Asp