Canonical Allele Identifier: CA363408651

Gene: CFB

Linked Data

• ClinVar Variation Id: 2786971
• ClinVar RCV Id: RCV003660481
• dbSNP Id: rs771770314
• gnomAD v4: 6-31950641-G-C
• MyVariant Identifiers: chr6:g.31918418G>C (hg19) ; chr6:g.31950641G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950641G>C , CM000668.2:g.31950641G>C	GRCh38
NC_000006.11:g.31918418G>C , CM000668.1:g.31918418G>C	GRCh37
NC_000006.10:g.32026397G>C	NCBI36
NG_008191.1:g.9698G>C , LRG_136:g.9698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2039G>C
ENST00000483004.2:c.1431G>C	ENSP00000419887.2:p.Glu477Asp
ENST00000698628.1:c.1624+238G>C	ENSP00000513848.1:n.1624+238G>C
ENST00000698629.1:n.1824G>C
ENST00000698630.1:n.2363G>C
ENST00000698631.1:n.2364G>C
ENST00000698632.1:n.3158G>C
ENST00000698633.1:n.3048G>C
ENST00000698636.1:n.1869G>C
ENST00000425368.7:c.1647G>C MANE Select	ENSP00000416561.2:p.Glu549Asp
ENST00000425368.6:c.1647G>C	ENSP00000416561.2:p.Glu549Asp
ENST00000452035.6:n.1862G>C
ENST00000456570.5:c.3153G>C	ENSP00000410815.1:p.Glu1051Asp
ENST00000467360.1:n.773G>C
ENST00000477310.1:c.2700G>C	ENSP00000418996.1:p.Glu900Asp
ENST00000483004.1:c.269G>C
NM_001710.5:c.1647G>C , LRG_136t1:c.1647G>C	NP_001701.2:p.Glu549Asp
NM_001710.6:c.1647G>C MANE Select	NP_001701.2:p.Glu549Asp