Canonical Allele Identifier: CA3727954

Gene: CFB

Linked Data

• dbSNP Id: rs777499237
• ExAC: 6:31914206 G / T
• gnomAD v2: 6-31914206-G-T
• MyVariant Identifiers: chr6:g.31914206G>T (hg19) ; chr6:g.31946429G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946429G>T , CM000668.2:g.31946429G>T	GRCh38
NC_000006.11:g.31914206G>T , CM000668.1:g.31914206G>T	GRCh37
NC_000006.10:g.32022185G>T	NCBI36
NG_008191.1:g.5486G>T , LRG_136:g.5486G>T
NG_011730.1:g.23941G>T , LRG_26:g.23941G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.298G>T
ENST00000483004.2:c.121G>T	ENSP00000419887.2:p.Gly41Trp
ENST00000497841.6:c.121G>T	ENSP00000513847.1:p.Gly41Trp
ENST00000698628.1:c.121G>T	ENSP00000513848.1:p.Gly41Trp
ENST00000698629.1:n.298G>T
ENST00000698630.1:n.282G>T
ENST00000698631.1:n.277G>T
ENST00000698632.1:n.249G>T
ENST00000698633.1:n.219G>T
ENST00000698636.1:n.343G>T
ENST00000425368.7:c.121G>T MANE Select	ENSP00000416561.2:p.Gly41Trp
ENST00000425368.6:c.121G>T	ENSP00000416561.2:p.Gly41Trp
ENST00000452035.6:n.121G>T
ENST00000456570.5:c.1627G>T	ENSP00000410815.1:p.Gly543Trp
ENST00000460718.5:c.65-57G>T	ENSP00000417793.1:n.65-57G>T
ENST00000472581.1:n.368G>T
ENST00000475617.5:c.121G>T	ENSP00000420090.1:p.Gly41Trp
ENST00000477310.1:c.1352-578G>T	ENSP00000418996.1:n.1352-578G>T
NM_001710.5:c.121G>T , LRG_136t1:c.121G>T	NP_001701.2:p.Gly41Trp
NM_001710.6:c.121G>T MANE Select	NP_001701.2:p.Gly41Trp