Canonical Allele Identifier: CA363409235

Gene: CFB

Linked Data

• gnomAD v4: 6-31950741-A-C
• MyVariant Identifiers: chr6:g.31918518A>C (hg19) ; chr6:g.31950741A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950741A>C , CM000668.2:g.31950741A>C	GRCh38
NC_000006.11:g.31918518A>C , CM000668.1:g.31918518A>C	GRCh37
NC_000006.10:g.32026497A>C	NCBI36
NG_008191.1:g.9798A>C , LRG_136:g.9798A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2139A>C
ENST00000483004.2:c.1531A>C	ENSP00000419887.2:p.Lys511Gln
ENST00000698628.1:c.1624+338A>C	ENSP00000513848.1:n.1624+338A>C
ENST00000698629.1:n.1924A>C
ENST00000698630.1:n.2463A>C
ENST00000698631.1:n.2464A>C
ENST00000698632.1:n.3258A>C
ENST00000698633.1:n.3148A>C
ENST00000698636.1:n.1969A>C
ENST00000425368.7:c.1747A>C MANE Select	ENSP00000416561.2:p.Lys583Gln
ENST00000425368.6:c.1747A>C	ENSP00000416561.2:p.Lys583Gln
ENST00000456570.5:c.3253A>C	ENSP00000410815.1:p.Lys1085Gln
ENST00000467360.1:n.873A>C
ENST00000477310.1:c.2800A>C	ENSP00000418996.1:p.Lys934Gln
ENST00000483004.1:c.369A>C
NM_001710.5:c.1747A>C , LRG_136t1:c.1747A>C	NP_001701.2:p.Lys583Gln
NM_001710.6:c.1747A>C MANE Select	NP_001701.2:p.Lys583Gln