Canonical Allele Identifier: CA449812146

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918487T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950710T>C , CM000668.2:g.31950710T>C	GRCh38
NC_000006.11:g.31918487T>C , CM000668.1:g.31918487T>C	GRCh37
NC_000006.10:g.32026466T>C	NCBI36
NG_008191.1:g.9767T>C , LRG_136:g.9767T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2108T>C
ENST00000483004.2:c.1500T>C	ENSP00000419887.2:p.Phe500=
ENST00000698628.1:c.1624+307T>C	ENSP00000513848.1:n.1624+307T>C
ENST00000698629.1:n.1893T>C
ENST00000698630.1:n.2432T>C
ENST00000698631.1:n.2433T>C
ENST00000698632.1:n.3227T>C
ENST00000698633.1:n.3117T>C
ENST00000698636.1:n.1938T>C
ENST00000425368.7:c.1716T>C MANE Select	ENSP00000416561.2:p.Phe572=
ENST00000425368.6:c.1716T>C	ENSP00000416561.2:p.Phe572=
ENST00000456570.5:c.3222T>C	ENSP00000410815.1:p.Phe1074=
ENST00000467360.1:n.842T>C
ENST00000477310.1:c.2769T>C	ENSP00000418996.1:p.Phe923=
ENST00000483004.1:c.338T>C
NM_001710.5:c.1716T>C , LRG_136t1:c.1716T>C	NP_001701.2:p.Phe572=
NM_001710.6:c.1716T>C MANE Select	NP_001701.2:p.Phe572=