Canonical Allele Identifier: CA823919821

Gene: CFB

Linked Data

• dbSNP Id: rs962596324
• gnomAD v4: 6-31946684-A-C
• MyVariant Identifiers: chr6:g.31914461A>C (hg19) ; chr6:g.31946684A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946684A>C , CM000668.2:g.31946684A>C	GRCh38
NC_000006.11:g.31914461A>C , CM000668.1:g.31914461A>C	GRCh37
NC_000006.10:g.32022440A>C	NCBI36
NG_008191.1:g.5741A>C , LRG_136:g.5741A>C
NG_011730.1:g.24196A>C , LRG_26:g.24196A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+78A>C
ENST00000483004.2:c.298+78A>C	ENSP00000419887.2:n.298+78A>C
ENST00000497841.6:c.298+78A>C	ENSP00000513847.1:n.298+78A>C
ENST00000698628.1:c.298+78A>C	ENSP00000513848.1:n.298+78A>C
ENST00000698629.1:n.475+78A>C
ENST00000698630.1:n.537A>C
ENST00000698631.1:n.532A>C
ENST00000698632.1:n.504A>C
ENST00000698633.1:n.474A>C
ENST00000698636.1:n.520+78A>C
ENST00000425368.7:c.298+78A>C MANE Select	ENSP00000416561.2:n.298+78A>C
ENST00000425368.6:c.298+78A>C	ENSP00000416561.2:n.298+78A>C
ENST00000452035.6:n.298+78A>C
ENST00000456570.5:c.1804+78A>C	ENSP00000410815.1:n.1804+78A>C
ENST00000460718.5:c.185+78A>C	ENSP00000417793.1:n.185+78A>C
ENST00000472581.1:n.623A>C
ENST00000475617.5:c.298+78A>C	ENSP00000420090.1:n.298+78A>C
ENST00000477310.1:c.1352-323A>C	ENSP00000418996.1:n.1352-323A>C
NM_001710.5:c.298+78A>C , LRG_136t1:c.298+78A>C	NP_001701.2:n.298+78A>C
NM_001710.6:c.298+78A>C MANE Select	NP_001701.2:n.298+78A>C