Canonical Allele Identifier: CA363387335

Gene: CFB

Linked Data

• gnomAD v4: 6-31946246-C-T
• MyVariant Identifiers: chr6:g.31914023C>T (hg19) ; chr6:g.31946246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946246C>T , CM000668.2:g.31946246C>T	GRCh38
NC_000006.11:g.31914023C>T , CM000668.1:g.31914023C>T	GRCh37
NC_000006.10:g.32022002C>T	NCBI36
NG_008191.1:g.5303C>T , LRG_136:g.5303C>T
NG_011730.1:g.23758C>T , LRG_26:g.23758C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.202C>T
ENST00000483004.2:c.25C>T	ENSP00000419887.2:p.Leu9Phe
ENST00000497841.6:c.25C>T	ENSP00000513847.1:p.Leu9Phe
ENST00000698628.1:c.25C>T	ENSP00000513848.1:p.Leu9Phe
ENST00000698629.1:n.202C>T
ENST00000698630.1:n.186C>T
ENST00000698631.1:n.181C>T
ENST00000698632.1:n.153C>T
ENST00000698633.1:n.123C>T
ENST00000698636.1:n.247C>T
ENST00000425368.7:c.25C>T MANE Select	ENSP00000416561.2:p.Leu9Phe
ENST00000425368.6:c.25C>T	ENSP00000416561.2:p.Leu9Phe
ENST00000452035.6:n.25C>T
ENST00000456570.5:c.1571-127C>T	ENSP00000410815.1:n.1571-127C>T
ENST00000460718.5:c.25C>T	ENSP00000417793.1:p.Leu9Phe
ENST00000472581.1:n.272C>T
ENST00000475617.5:c.25C>T	ENSP00000420090.1:p.Leu9Phe
ENST00000477310.1:c.1352-761C>T	ENSP00000418996.1:n.1352-761C>T
NM_001710.5:c.25C>T , LRG_136t1:c.25C>T	NP_001701.2:p.Leu9Phe
NM_001710.6:c.25C>T MANE Select	NP_001701.2:p.Leu9Phe