Canonical Allele Identifier: CA363408684

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918426T>A (hg19) ; chr6:g.31950649T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950649T>A , CM000668.2:g.31950649T>A	GRCh38
NC_000006.11:g.31918426T>A , CM000668.1:g.31918426T>A	GRCh37
NC_000006.10:g.32026405T>A	NCBI36
NG_008191.1:g.9706T>A , LRG_136:g.9706T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2047T>A
ENST00000483004.2:c.1439T>A	ENSP00000419887.2:p.Val480Glu
ENST00000698628.1:c.1624+246T>A	ENSP00000513848.1:n.1624+246T>A
ENST00000698629.1:n.1832T>A
ENST00000698630.1:n.2371T>A
ENST00000698631.1:n.2372T>A
ENST00000698632.1:n.3166T>A
ENST00000698633.1:n.3056T>A
ENST00000698636.1:n.1877T>A
ENST00000425368.7:c.1655T>A MANE Select	ENSP00000416561.2:p.Val552Glu
ENST00000425368.6:c.1655T>A	ENSP00000416561.2:p.Val552Glu
ENST00000456570.5:c.3161T>A	ENSP00000410815.1:p.Val1054Glu
ENST00000467360.1:n.781T>A
ENST00000477310.1:c.2708T>A	ENSP00000418996.1:p.Val903Glu
ENST00000483004.1:c.277T>A
NM_001710.5:c.1655T>A , LRG_136t1:c.1655T>A	NP_001701.2:p.Val552Glu
NM_001710.6:c.1655T>A MANE Select	NP_001701.2:p.Val552Glu