Canonical Allele Identifier: CA363408658

Gene: CFB

Linked Data

• dbSNP Id: rs1771701183
• gnomAD v3: 6-31950642-A-G
• gnomAD v4: 6-31950642-A-G
• MyVariant Identifiers: chr6:g.31918419A>G (hg19) ; chr6:g.31950642A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950642A>G , CM000668.2:g.31950642A>G	GRCh38
NC_000006.11:g.31918419A>G , CM000668.1:g.31918419A>G	GRCh37
NC_000006.10:g.32026398A>G	NCBI36
NG_008191.1:g.9699A>G , LRG_136:g.9699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2040A>G
ENST00000483004.2:c.1432A>G	ENSP00000419887.2:p.Ile478Val
ENST00000698628.1:c.1624+239A>G	ENSP00000513848.1:n.1624+239A>G
ENST00000698629.1:n.1825A>G
ENST00000698630.1:n.2364A>G
ENST00000698631.1:n.2365A>G
ENST00000698632.1:n.3159A>G
ENST00000698633.1:n.3049A>G
ENST00000698636.1:n.1870A>G
ENST00000425368.7:c.1648A>G MANE Select	ENSP00000416561.2:p.Ile550Val
ENST00000425368.6:c.1648A>G	ENSP00000416561.2:p.Ile550Val
ENST00000452035.6:n.1863A>G
ENST00000456570.5:c.3154A>G	ENSP00000410815.1:p.Ile1052Val
ENST00000467360.1:n.774A>G
ENST00000477310.1:c.2701A>G	ENSP00000418996.1:p.Ile901Val
ENST00000483004.1:c.270A>G
NM_001710.5:c.1648A>G , LRG_136t1:c.1648A>G	NP_001701.2:p.Ile550Val
NM_001710.6:c.1648A>G MANE Select	NP_001701.2:p.Ile550Val