Canonical Allele Identifier: CA363388402

Gene: CFB

Linked Data

• ClinVar Variation Id: 2714529
• ClinVar RCV Id: RCV003550910
• MyVariant Identifiers: chr6:g.31914243A>C (hg19) ; chr6:g.31946466A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946466A>C , CM000668.2:g.31946466A>C	GRCh38
NC_000006.11:g.31914243A>C , CM000668.1:g.31914243A>C	GRCh37
NC_000006.10:g.32022222A>C	NCBI36
NG_008191.1:g.5523A>C , LRG_136:g.5523A>C
NG_011730.1:g.23978A>C , LRG_26:g.23978A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.335A>C
ENST00000483004.2:c.158A>C	ENSP00000419887.2:p.Gln53Pro
ENST00000497841.6:c.158A>C	ENSP00000513847.1:p.Gln53Pro
ENST00000698628.1:c.158A>C	ENSP00000513848.1:p.Gln53Pro
ENST00000698629.1:n.335A>C
ENST00000698630.1:n.319A>C
ENST00000698631.1:n.314A>C
ENST00000698632.1:n.286A>C
ENST00000698633.1:n.256A>C
ENST00000698636.1:n.380A>C
ENST00000425368.7:c.158A>C MANE Select	ENSP00000416561.2:p.Gln53Pro
ENST00000425368.6:c.158A>C	ENSP00000416561.2:p.Gln53Pro
ENST00000452035.6:n.158A>C
ENST00000456570.5:c.1664A>C	ENSP00000410815.1:p.Gln555Pro
ENST00000460718.5:c.65-20A>C	ENSP00000417793.1:n.65-20A>C
ENST00000472581.1:n.405A>C
ENST00000475617.5:c.158A>C	ENSP00000420090.1:p.Gln53Pro
ENST00000477310.1:c.1352-541A>C	ENSP00000418996.1:n.1352-541A>C
NM_001710.5:c.158A>C , LRG_136t1:c.158A>C	NP_001701.2:p.Gln53Pro
NM_001710.6:c.158A>C MANE Select	NP_001701.2:p.Gln53Pro