Canonical Allele Identifier: CA363387978

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914185C>G (hg19) ; chr6:g.31946408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946408C>G , CM000668.2:g.31946408C>G	GRCh38
NC_000006.11:g.31914185C>G , CM000668.1:g.31914185C>G	GRCh37
NC_000006.10:g.32022164C>G	NCBI36
NG_008191.1:g.5465C>G , LRG_136:g.5465C>G
NG_011730.1:g.23920C>G , LRG_26:g.23920C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.277C>G
ENST00000483004.2:c.100C>G	ENSP00000419887.2:p.Gln34Glu
ENST00000497841.6:c.100C>G	ENSP00000513847.1:p.Gln34Glu
ENST00000698628.1:c.100C>G	ENSP00000513848.1:p.Gln34Glu
ENST00000698629.1:n.277C>G
ENST00000698630.1:n.261C>G
ENST00000698631.1:n.256C>G
ENST00000698632.1:n.228C>G
ENST00000698633.1:n.198C>G
ENST00000698636.1:n.322C>G
ENST00000425368.7:c.100C>G MANE Select	ENSP00000416561.2:p.Gln34Glu
ENST00000425368.6:c.100C>G	ENSP00000416561.2:p.Gln34Glu
ENST00000452035.6:n.100C>G
ENST00000456570.5:c.1606C>G	ENSP00000410815.1:p.Gln536Glu
ENST00000460718.5:c.65-78C>G	ENSP00000417793.1:n.65-78C>G
ENST00000472581.1:n.347C>G
ENST00000475617.5:c.100C>G	ENSP00000420090.1:p.Gln34Glu
ENST00000477310.1:c.1352-599C>G	ENSP00000418996.1:n.1352-599C>G
NM_001710.5:c.100C>G , LRG_136t1:c.100C>G	NP_001701.2:p.Gln34Glu
NM_001710.6:c.100C>G MANE Select	NP_001701.2:p.Gln34Glu