Canonical Allele Identifier: CA363387738

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914153T>A (hg19) ; chr6:g.31946376T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946376T>A , CM000668.2:g.31946376T>A	GRCh38
NC_000006.11:g.31914153T>A , CM000668.1:g.31914153T>A	GRCh37
NC_000006.10:g.32022132T>A	NCBI36
NG_008191.1:g.5433T>A , LRG_136:g.5433T>A
NG_011730.1:g.23888T>A , LRG_26:g.23888T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.245T>A
ENST00000483004.2:c.68T>A	ENSP00000419887.2:p.Val23Glu
ENST00000497841.6:c.68T>A	ENSP00000513847.1:p.Val23Glu
ENST00000698628.1:c.68T>A	ENSP00000513848.1:p.Val23Glu
ENST00000698629.1:n.245T>A
ENST00000698630.1:n.229T>A
ENST00000698631.1:n.224T>A
ENST00000698632.1:n.196T>A
ENST00000698633.1:n.166T>A
ENST00000698636.1:n.290T>A
ENST00000425368.7:c.68T>A MANE Select	ENSP00000416561.2:p.Val23Glu
ENST00000425368.6:c.68T>A	ENSP00000416561.2:p.Val23Glu
ENST00000452035.6:n.68T>A
ENST00000456570.5:c.1574T>A	ENSP00000410815.1:p.Val525Glu
ENST00000460718.5:c.64+91T>A	ENSP00000417793.1:n.64+91T>A
ENST00000472581.1:n.315T>A
ENST00000475617.5:c.68T>A	ENSP00000420090.1:p.Val23Glu
ENST00000477310.1:c.1352-631T>A	ENSP00000418996.1:n.1352-631T>A
NM_001710.5:c.68T>A , LRG_136t1:c.68T>A	NP_001701.2:p.Val23Glu
NM_001710.6:c.68T>A MANE Select	NP_001701.2:p.Val23Glu