Canonical Allele Identifier: CA3728430

Gene: CFB

Linked Data

• dbSNP Id: rs753145747
• ExAC: 6:31918458 G / A
• MyVariant Identifiers: chr6:g.31918458G>A (hg19) ; chr6:g.31950681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950681G>A , CM000668.2:g.31950681G>A	GRCh38
NC_000006.11:g.31918458G>A , CM000668.1:g.31918458G>A	GRCh37
NC_000006.10:g.32026437G>A	NCBI36
NG_008191.1:g.9738G>A , LRG_136:g.9738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2079G>A
ENST00000483004.2:c.1471G>A	ENSP00000419887.2:p.Gly491Arg
ENST00000698628.1:c.1624+278G>A	ENSP00000513848.1:n.1624+278G>A
ENST00000698629.1:n.1864G>A
ENST00000698630.1:n.2403G>A
ENST00000698631.1:n.2404G>A
ENST00000698632.1:n.3198G>A
ENST00000698633.1:n.3088G>A
ENST00000698636.1:n.1909G>A
ENST00000425368.7:c.1687G>A MANE Select	ENSP00000416561.2:p.Gly563Arg
ENST00000425368.6:c.1687G>A	ENSP00000416561.2:p.Gly563Arg
ENST00000456570.5:c.3193G>A	ENSP00000410815.1:p.Gly1065Arg
ENST00000467360.1:n.813G>A
ENST00000477310.1:c.2740G>A	ENSP00000418996.1:p.Gly914Arg
ENST00000483004.1:c.309G>A
NM_001710.5:c.1687G>A , LRG_136t1:c.1687G>A	NP_001701.2:p.Gly563Arg
NM_001710.6:c.1687G>A MANE Select	NP_001701.2:p.Gly563Arg