Canonical Allele Identifier: CA449812116

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918460G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950683G>C , CM000668.2:g.31950683G>C	GRCh38
NC_000006.11:g.31918460G>C , CM000668.1:g.31918460G>C	GRCh37
NC_000006.10:g.32026439G>C	NCBI36
NG_008191.1:g.9740G>C , LRG_136:g.9740G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2081G>C
ENST00000483004.2:c.1473G>C	ENSP00000419887.2:p.Gly491=
ENST00000698628.1:c.1624+280G>C	ENSP00000513848.1:n.1624+280G>C
ENST00000698629.1:n.1866G>C
ENST00000698630.1:n.2405G>C
ENST00000698631.1:n.2406G>C
ENST00000698632.1:n.3200G>C
ENST00000698633.1:n.3090G>C
ENST00000698636.1:n.1911G>C
ENST00000425368.7:c.1689G>C MANE Select	ENSP00000416561.2:p.Gly563=
ENST00000425368.6:c.1689G>C	ENSP00000416561.2:p.Gly563=
ENST00000456570.5:c.3195G>C	ENSP00000410815.1:p.Gly1065=
ENST00000467360.1:n.815G>C
ENST00000477310.1:c.2742G>C	ENSP00000418996.1:p.Gly914=
ENST00000483004.1:c.311G>C
NM_001710.5:c.1689G>C , LRG_136t1:c.1689G>C	NP_001701.2:p.Gly563=
NM_001710.6:c.1689G>C MANE Select	NP_001701.2:p.Gly563=