Canonical Allele Identifier: CA363409042

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918485T>A (hg19) ; chr6:g.31950708T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950708T>A , CM000668.2:g.31950708T>A	GRCh38
NC_000006.11:g.31918485T>A , CM000668.1:g.31918485T>A	GRCh37
NC_000006.10:g.32026464T>A	NCBI36
NG_008191.1:g.9765T>A , LRG_136:g.9765T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2106T>A
ENST00000483004.2:c.1498T>A	ENSP00000419887.2:p.Phe500Ile
ENST00000698628.1:c.1624+305T>A	ENSP00000513848.1:n.1624+305T>A
ENST00000698629.1:n.1891T>A
ENST00000698630.1:n.2430T>A
ENST00000698631.1:n.2431T>A
ENST00000698632.1:n.3225T>A
ENST00000698633.1:n.3115T>A
ENST00000698636.1:n.1936T>A
ENST00000425368.7:c.1714T>A MANE Select	ENSP00000416561.2:p.Phe572Ile
ENST00000425368.6:c.1714T>A	ENSP00000416561.2:p.Phe572Ile
ENST00000456570.5:c.3220T>A	ENSP00000410815.1:p.Phe1074Ile
ENST00000467360.1:n.840T>A
ENST00000477310.1:c.2767T>A	ENSP00000418996.1:p.Phe923Ile
ENST00000483004.1:c.336T>A
NM_001710.5:c.1714T>A , LRG_136t1:c.1714T>A	NP_001701.2:p.Phe572Ile
NM_001710.6:c.1714T>A MANE Select	NP_001701.2:p.Phe572Ile