Canonical Allele Identifier: CA136893275

Gene: CFB

Linked Data

• dbSNP Id: rs1044669118
• gnomAD v3: 6-31946421-C-G
• gnomAD v4: 6-31946421-C-G
• MyVariant Identifiers: chr6:g.31914198C>G (hg19) ; chr6:g.31946421C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946421C>G , CM000668.2:g.31946421C>G	GRCh38
NC_000006.11:g.31914198C>G , CM000668.1:g.31914198C>G	GRCh37
NC_000006.10:g.32022177C>G	NCBI36
NG_008191.1:g.5478C>G , LRG_136:g.5478C>G
NG_011730.1:g.23933C>G , LRG_26:g.23933C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.290C>G
ENST00000483004.2:c.113C>G	ENSP00000419887.2:p.Ser38Cys
ENST00000497841.6:c.113C>G	ENSP00000513847.1:p.Ser38Cys
ENST00000698628.1:c.113C>G	ENSP00000513848.1:p.Ser38Cys
ENST00000698629.1:n.290C>G
ENST00000698630.1:n.274C>G
ENST00000698631.1:n.269C>G
ENST00000698632.1:n.241C>G
ENST00000698633.1:n.211C>G
ENST00000698636.1:n.335C>G
ENST00000425368.7:c.113C>G MANE Select	ENSP00000416561.2:p.Ser38Cys
ENST00000425368.6:c.113C>G	ENSP00000416561.2:p.Ser38Cys
ENST00000452035.6:n.113C>G
ENST00000456570.5:c.1619C>G	ENSP00000410815.1:p.Ser540Cys
ENST00000460718.5:c.65-65C>G	ENSP00000417793.1:n.65-65C>G
ENST00000472581.1:n.360C>G
ENST00000475617.5:c.113C>G	ENSP00000420090.1:p.Ser38Cys
ENST00000477310.1:c.1352-586C>G	ENSP00000418996.1:n.1352-586C>G
NM_001710.5:c.113C>G , LRG_136t1:c.113C>G	NP_001701.2:p.Ser38Cys
NM_001710.6:c.113C>G MANE Select	NP_001701.2:p.Ser38Cys