Canonical Allele Identifier: CA136893255

Gene: CFB

Linked Data

• dbSNP Id: rs867339800
• gnomAD v2: 6-31914177-C-T
• MyVariant Identifiers: chr6:g.31914177C>T (hg19) ; chr6:g.31946400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946400C>T , CM000668.2:g.31946400C>T	GRCh38
NC_000006.11:g.31914177C>T , CM000668.1:g.31914177C>T	GRCh37
NC_000006.10:g.32022156C>T	NCBI36
NG_008191.1:g.5457C>T , LRG_136:g.5457C>T
NG_011730.1:g.23912C>T , LRG_26:g.23912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.269C>T
ENST00000483004.2:c.92C>T	ENSP00000419887.2:p.Ala31Val
ENST00000497841.6:c.92C>T	ENSP00000513847.1:p.Ala31Val
ENST00000698628.1:c.92C>T	ENSP00000513848.1:p.Ala31Val
ENST00000698629.1:n.269C>T
ENST00000698630.1:n.253C>T
ENST00000698631.1:n.248C>T
ENST00000698632.1:n.220C>T
ENST00000698633.1:n.190C>T
ENST00000698636.1:n.314C>T
ENST00000425368.7:c.92C>T MANE Select	ENSP00000416561.2:p.Ala31Val
ENST00000425368.6:c.92C>T	ENSP00000416561.2:p.Ala31Val
ENST00000452035.6:n.92C>T
ENST00000456570.5:c.1598C>T	ENSP00000410815.1:p.Ala533Val
ENST00000460718.5:c.65-86C>T	ENSP00000417793.1:n.65-86C>T
ENST00000472581.1:n.339C>T
ENST00000475617.5:c.92C>T	ENSP00000420090.1:p.Ala31Val
ENST00000477310.1:c.1352-607C>T	ENSP00000418996.1:n.1352-607C>T
NM_001710.5:c.92C>T , LRG_136t1:c.92C>T	NP_001701.2:p.Ala31Val
NM_001710.6:c.92C>T MANE Select	NP_001701.2:p.Ala31Val