Canonical Allele Identifier: CA363389407

Gene: CFB

Linked Data

• ClinVar Variation Id: 1383679
• ClinVar RCV Id: RCV001892784
• dbSNP Id: rs2151780440
• gnomAD v4: 6-31946555-A-G
• MyVariant Identifiers: chr6:g.31914332A>G (hg19) ; chr6:g.31946555A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946555A>G , CM000668.2:g.31946555A>G	GRCh38
NC_000006.11:g.31914332A>G , CM000668.1:g.31914332A>G	GRCh37
NC_000006.10:g.32022311A>G	NCBI36
NG_008191.1:g.5612A>G , LRG_136:g.5612A>G
NG_011730.1:g.24067A>G , LRG_26:g.24067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.424A>G
ENST00000483004.2:c.247A>G	ENSP00000419887.2:p.Ser83Gly
ENST00000497841.6:c.247A>G	ENSP00000513847.1:p.Ser83Gly
ENST00000698628.1:c.247A>G	ENSP00000513848.1:p.Ser83Gly
ENST00000698629.1:n.424A>G
ENST00000698630.1:n.408A>G
ENST00000698631.1:n.403A>G
ENST00000698632.1:n.375A>G
ENST00000698633.1:n.345A>G
ENST00000698636.1:n.469A>G
ENST00000425368.7:c.247A>G MANE Select	ENSP00000416561.2:p.Ser83Gly
ENST00000425368.6:c.247A>G	ENSP00000416561.2:p.Ser83Gly
ENST00000452035.6:n.247A>G
ENST00000456570.5:c.1753A>G	ENSP00000410815.1:p.Ser585Gly
ENST00000460718.5:c.134A>G	ENSP00000417793.1:p.Glu45Gly
ENST00000472581.1:n.494A>G
ENST00000475617.5:c.247A>G	ENSP00000420090.1:p.Ser83Gly
ENST00000477310.1:c.1352-452A>G	ENSP00000418996.1:n.1352-452A>G
NM_001710.5:c.247A>G , LRG_136t1:c.247A>G	NP_001701.2:p.Ser83Gly
NM_001710.6:c.247A>G MANE Select	NP_001701.2:p.Ser83Gly