Canonical Allele Identifier: CA363409018

Gene: CFB

Linked Data

• dbSNP Id: rs1771707725
• gnomAD v4: 6-31950703-C-G
• MyVariant Identifiers: chr6:g.31918480C>G (hg19) ; chr6:g.31950703C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950703C>G , CM000668.2:g.31950703C>G	GRCh38
NC_000006.11:g.31918480C>G , CM000668.1:g.31918480C>G	GRCh37
NC_000006.10:g.32026459C>G	NCBI36
NG_008191.1:g.9760C>G , LRG_136:g.9760C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2101C>G
ENST00000483004.2:c.1493C>G	ENSP00000419887.2:p.Pro498Arg
ENST00000698628.1:c.1624+300C>G	ENSP00000513848.1:n.1624+300C>G
ENST00000698629.1:n.1886C>G
ENST00000698630.1:n.2425C>G
ENST00000698631.1:n.2426C>G
ENST00000698632.1:n.3220C>G
ENST00000698633.1:n.3110C>G
ENST00000698636.1:n.1931C>G
ENST00000425368.7:c.1709C>G MANE Select	ENSP00000416561.2:p.Pro570Arg
ENST00000425368.6:c.1709C>G	ENSP00000416561.2:p.Pro570Arg
ENST00000456570.5:c.3215C>G	ENSP00000410815.1:p.Pro1072Arg
ENST00000467360.1:n.835C>G
ENST00000477310.1:c.2762C>G	ENSP00000418996.1:p.Pro921Arg
ENST00000483004.1:c.331C>G
NM_001710.5:c.1709C>G , LRG_136t1:c.1709C>G	NP_001701.2:p.Pro570Arg
NM_001710.6:c.1709C>G MANE Select	NP_001701.2:p.Pro570Arg