Canonical Allele Identifier: CA363409298

Gene: CFB

Linked Data

• dbSNP Id: rs1562632366
• gnomAD v2: 6-31918527-C-A
• gnomAD v3: 6-31950750-C-A
• gnomAD v4: 6-31950750-C-A
• MyVariant Identifiers: chr6:g.31918527C>A (hg19) ; chr6:g.31950750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950750C>A , CM000668.2:g.31950750C>A	GRCh38
NC_000006.11:g.31918527C>A , CM000668.1:g.31918527C>A	GRCh37
NC_000006.10:g.32026506C>A	NCBI36
NG_008191.1:g.9807C>A , LRG_136:g.9807C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2148C>A
ENST00000483004.2:c.1540C>A	ENSP00000419887.2:p.Leu514Met
ENST00000698628.1:c.1624+347C>A	ENSP00000513848.1:n.1624+347C>A
ENST00000698629.1:n.1933C>A
ENST00000698630.1:n.2472C>A
ENST00000698631.1:n.2473C>A
ENST00000698632.1:n.3267C>A
ENST00000698633.1:n.3157C>A
ENST00000698636.1:n.1978C>A
ENST00000425368.7:c.1756C>A MANE Select	ENSP00000416561.2:p.Leu586Met
ENST00000425368.6:c.1756C>A	ENSP00000416561.2:p.Leu586Met
ENST00000456570.5:c.3262C>A	ENSP00000410815.1:p.Leu1088Met
ENST00000467360.1:n.882C>A
ENST00000477310.1:c.2809C>A	ENSP00000418996.1:p.Leu937Met
ENST00000483004.1:c.378C>A
NM_001710.5:c.1756C>A , LRG_136t1:c.1756C>A	NP_001701.2:p.Leu586Met
NM_001710.6:c.1756C>A MANE Select	NP_001701.2:p.Leu586Met