Canonical Allele Identifier: CA449683398

Gene: CFB

Linked Data

• dbSNP Id: rs1048709
• MyVariant Identifiers: chr6:g.31914935A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31947158A>T , CM000668.2:g.31947158A>T	GRCh38
NC_000006.11:g.31914935A>T , CM000668.1:g.31914935A>T	GRCh37
NC_000006.10:g.32022914A>T	NCBI36
NG_008191.1:g.6215A>T , LRG_136:g.6215A>T
NG_011730.1:g.24670A>T , LRG_26:g.24670A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.627A>T
ENST00000483004.2:c.450A>T	ENSP00000419887.2:p.Arg150=
ENST00000497841.6:c.450A>T	ENSP00000513847.1:p.Arg150=
ENST00000698628.1:c.450A>T	ENSP00000513848.1:p.Arg150=
ENST00000698629.1:n.627A>T
ENST00000698630.1:n.1011A>T
ENST00000698631.1:n.1006A>T
ENST00000698632.1:n.978A>T
ENST00000698633.1:n.948A>T
ENST00000698636.1:n.672A>T
ENST00000425368.7:c.450A>T MANE Select	ENSP00000416561.2:p.Arg150=
ENST00000425368.6:c.450A>T	ENSP00000416561.2:p.Arg150=
ENST00000452035.6:n.450A>T
ENST00000456570.5:c.1956A>T	ENSP00000410815.1:p.Arg652=
ENST00000460718.5:c.*76A>T	ENSP00000417793.1:n.*76A>T
ENST00000477310.1:c.1503A>T	ENSP00000418996.1:p.Arg501=
NM_001710.5:c.450A>T , LRG_136t1:c.450A>T	NP_001701.2:p.Arg150=
NM_001710.6:c.450A>T MANE Select	NP_001701.2:p.Arg150=