Canonical Allele Identifier: CA363388342

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914232C>A (hg19) ; chr6:g.31946455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946455C>A , CM000668.2:g.31946455C>A	GRCh38
NC_000006.11:g.31914232C>A , CM000668.1:g.31914232C>A	GRCh37
NC_000006.10:g.32022211C>A	NCBI36
NG_008191.1:g.5512C>A , LRG_136:g.5512C>A
NG_011730.1:g.23967C>A , LRG_26:g.23967C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.324C>A
ENST00000483004.2:c.147C>A	ENSP00000419887.2:p.Phe49Leu
ENST00000497841.6:c.147C>A	ENSP00000513847.1:p.Phe49Leu
ENST00000698628.1:c.147C>A	ENSP00000513848.1:p.Phe49Leu
ENST00000698629.1:n.324C>A
ENST00000698630.1:n.308C>A
ENST00000698631.1:n.303C>A
ENST00000698632.1:n.275C>A
ENST00000698633.1:n.245C>A
ENST00000698636.1:n.369C>A
ENST00000425368.7:c.147C>A MANE Select	ENSP00000416561.2:p.Phe49Leu
ENST00000425368.6:c.147C>A	ENSP00000416561.2:p.Phe49Leu
ENST00000452035.6:n.147C>A
ENST00000456570.5:c.1653C>A	ENSP00000410815.1:p.Phe551Leu
ENST00000460718.5:c.65-31C>A	ENSP00000417793.1:n.65-31C>A
ENST00000472581.1:n.394C>A
ENST00000475617.5:c.147C>A	ENSP00000420090.1:p.Phe49Leu
ENST00000477310.1:c.1352-552C>A	ENSP00000418996.1:n.1352-552C>A
NM_001710.5:c.147C>A , LRG_136t1:c.147C>A	NP_001701.2:p.Phe49Leu
NM_001710.6:c.147C>A MANE Select	NP_001701.2:p.Phe49Leu