Canonical Allele Identifier: CA363409925

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918688A>T (hg19) ; chr6:g.31950911A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950911A>T , CM000668.2:g.31950911A>T	GRCh38
NC_000006.11:g.31918688A>T , CM000668.1:g.31918688A>T	GRCh37
NC_000006.10:g.32026667A>T	NCBI36
NG_008191.1:g.9968A>T , LRG_136:g.9968A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2309A>T
ENST00000483004.2:c.1606A>T	ENSP00000419887.2:p.Arg536Trp
ENST00000698628.1:c.1625-233A>T	ENSP00000513848.1:n.1625-233A>T
ENST00000698629.1:n.2094A>T
ENST00000698630.1:n.2538A>T
ENST00000698631.1:n.2539A>T
ENST00000698632.1:n.3428A>T
ENST00000698633.1:n.3318A>T
ENST00000425368.7:c.1822A>T MANE Select	ENSP00000416561.2:p.Arg608Trp
ENST00000425368.6:c.1822A>T	ENSP00000416561.2:p.Arg608Trp
ENST00000456570.5:c.3328A>T	ENSP00000410815.1:p.Arg1110Trp
ENST00000467360.1:n.948A>T
ENST00000477310.1:c.2875A>T	ENSP00000418996.1:p.Arg959Trp
ENST00000482312.1:n.38A>T
ENST00000483004.1:c.444A>T
NM_001710.5:c.1822A>T , LRG_136t1:c.1822A>T	NP_001701.2:p.Arg608Trp
NM_001710.6:c.1822A>T MANE Select	NP_001701.2:p.Arg608Trp