Canonical Allele Identifier: CA449812071

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918430C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950653C>A , CM000668.2:g.31950653C>A	GRCh38
NC_000006.11:g.31918430C>A , CM000668.1:g.31918430C>A	GRCh37
NC_000006.10:g.32026409C>A	NCBI36
NG_008191.1:g.9710C>A , LRG_136:g.9710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2051C>A
ENST00000483004.2:c.1443C>A	ENSP00000419887.2:p.Val481=
ENST00000698628.1:c.1624+250C>A	ENSP00000513848.1:n.1624+250C>A
ENST00000698629.1:n.1836C>A
ENST00000698630.1:n.2375C>A
ENST00000698631.1:n.2376C>A
ENST00000698632.1:n.3170C>A
ENST00000698633.1:n.3060C>A
ENST00000698636.1:n.1881C>A
ENST00000425368.7:c.1659C>A MANE Select	ENSP00000416561.2:p.Val553=
ENST00000425368.6:c.1659C>A	ENSP00000416561.2:p.Val553=
ENST00000456570.5:c.3165C>A	ENSP00000410815.1:p.Val1055=
ENST00000467360.1:n.785C>A
ENST00000477310.1:c.2712C>A	ENSP00000418996.1:p.Val904=
ENST00000483004.1:c.281C>A
NM_001710.5:c.1659C>A , LRG_136t1:c.1659C>A	NP_001701.2:p.Val553=
NM_001710.6:c.1659C>A MANE Select	NP_001701.2:p.Val553=