Canonical Allele Identifier: CA3727957

Gene: CFB

Linked Data

• dbSNP Id: rs780787668
• ExAC: 6:31914211 A / G
• gnomAD v2: 6-31914211-A-G
• gnomAD v4: 6-31946434-A-G
• MyVariant Identifiers: chr6:g.31914211A>G (hg19) ; chr6:g.31946434A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946434A>G , CM000668.2:g.31946434A>G	GRCh38
NC_000006.11:g.31914211A>G , CM000668.1:g.31914211A>G	GRCh37
NC_000006.10:g.32022190A>G	NCBI36
NG_008191.1:g.5491A>G , LRG_136:g.5491A>G
NG_011730.1:g.23946A>G , LRG_26:g.23946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.303A>G
ENST00000483004.2:c.126A>G	ENSP00000419887.2:p.Val42=
ENST00000497841.6:c.126A>G	ENSP00000513847.1:p.Val42=
ENST00000698628.1:c.126A>G	ENSP00000513848.1:p.Val42=
ENST00000698629.1:n.303A>G
ENST00000698630.1:n.287A>G
ENST00000698631.1:n.282A>G
ENST00000698632.1:n.254A>G
ENST00000698633.1:n.224A>G
ENST00000698636.1:n.348A>G
ENST00000425368.7:c.126A>G MANE Select	ENSP00000416561.2:p.Val42=
ENST00000425368.6:c.126A>G	ENSP00000416561.2:p.Val42=
ENST00000452035.6:n.126A>G
ENST00000456570.5:c.1632A>G	ENSP00000410815.1:p.Val544=
ENST00000460718.5:c.65-52A>G	ENSP00000417793.1:n.65-52A>G
ENST00000472581.1:n.373A>G
ENST00000475617.5:c.126A>G	ENSP00000420090.1:p.Val42=
ENST00000477310.1:c.1352-573A>G	ENSP00000418996.1:n.1352-573A>G
NM_001710.5:c.126A>G , LRG_136t1:c.126A>G	NP_001701.2:p.Val42=
NM_001710.6:c.126A>G MANE Select	NP_001701.2:p.Val42=