Canonical Allele Identifier: CA363409977

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918691C>A (hg19) ; chr6:g.31950914C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950914C>A , CM000668.2:g.31950914C>A	GRCh38
NC_000006.11:g.31918691C>A , CM000668.1:g.31918691C>A	GRCh37
NC_000006.10:g.32026670C>A	NCBI36
NG_008191.1:g.9971C>A , LRG_136:g.9971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2312C>A
ENST00000483004.2:c.1609C>A	ENSP00000419887.2:p.Leu537Ile
ENST00000698628.1:c.1625-230C>A	ENSP00000513848.1:n.1625-230C>A
ENST00000698629.1:n.2097C>A
ENST00000698630.1:n.2541C>A
ENST00000698631.1:n.2542C>A
ENST00000698632.1:n.3431C>A
ENST00000698633.1:n.3321C>A
ENST00000425368.7:c.1825C>A MANE Select	ENSP00000416561.2:p.Leu609Ile
ENST00000425368.6:c.1825C>A	ENSP00000416561.2:p.Leu609Ile
ENST00000456570.5:c.3331C>A	ENSP00000410815.1:p.Leu1111Ile
ENST00000467360.1:n.951C>A
ENST00000477310.1:c.2878C>A	ENSP00000418996.1:p.Leu960Ile
ENST00000482312.1:n.41C>A
ENST00000483004.1:c.447C>A
NM_001710.5:c.1825C>A , LRG_136t1:c.1825C>A	NP_001701.2:p.Leu609Ile
NM_001710.6:c.1825C>A MANE Select	NP_001701.2:p.Leu609Ile