Canonical Allele Identifier: CA363387496

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914042T>A (hg19) ; chr6:g.31946265T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946265T>A , CM000668.2:g.31946265T>A	GRCh38
NC_000006.11:g.31914042T>A , CM000668.1:g.31914042T>A	GRCh37
NC_000006.10:g.32022021T>A	NCBI36
NG_008191.1:g.5322T>A , LRG_136:g.5322T>A
NG_011730.1:g.23777T>A , LRG_26:g.23777T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.221T>A
ENST00000483004.2:c.44T>A	ENSP00000419887.2:p.Ile15Asn
ENST00000497841.6:c.44T>A	ENSP00000513847.1:p.Ile15Asn
ENST00000698628.1:c.44T>A	ENSP00000513848.1:p.Ile15Asn
ENST00000698629.1:n.221T>A
ENST00000698630.1:n.205T>A
ENST00000698631.1:n.200T>A
ENST00000698632.1:n.172T>A
ENST00000698633.1:n.142T>A
ENST00000698636.1:n.266T>A
ENST00000425368.7:c.44T>A MANE Select	ENSP00000416561.2:p.Ile15Asn
ENST00000425368.6:c.44T>A	ENSP00000416561.2:p.Ile15Asn
ENST00000452035.6:n.44T>A
ENST00000456570.5:c.1571-108T>A	ENSP00000410815.1:n.1571-108T>A
ENST00000460718.5:c.44T>A	ENSP00000417793.1:p.Ile15Asn
ENST00000472581.1:n.291T>A
ENST00000475617.5:c.44T>A	ENSP00000420090.1:p.Ile15Asn
ENST00000477310.1:c.1352-742T>A	ENSP00000418996.1:n.1352-742T>A
NM_001710.5:c.44T>A , LRG_136t1:c.44T>A	NP_001701.2:p.Ile15Asn
NM_001710.6:c.44T>A MANE Select	NP_001701.2:p.Ile15Asn