Canonical Allele Identifier: CA566692891

Gene: CFB

Linked Data

• dbSNP Id: rs1372895239
• gnomAD v2: 6-31918273-T-C
• gnomAD v3: 6-31950496-T-C
• gnomAD v4: 6-31950496-T-C
• MyVariant Identifiers: chr6:g.31918273T>C (hg19) ; chr6:g.31950496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950496T>C , CM000668.2:g.31950496T>C	GRCh38
NC_000006.11:g.31918273T>C , CM000668.1:g.31918273T>C	GRCh37
NC_000006.10:g.32026252T>C	NCBI36
NG_008191.1:g.9553T>C , LRG_136:g.9553T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1894T>C
ENST00000483004.2:c.1409-123T>C	ENSP00000419887.2:n.1409-123T>C
ENST00000698628.1:c.1624+93T>C	ENSP00000513848.1:n.1624+93T>C
ENST00000698629.1:n.1801+93T>C
ENST00000698630.1:n.2340+93T>C
ENST00000698631.1:n.2341+93T>C
ENST00000698632.1:n.3013T>C
ENST00000698633.1:n.2903T>C
ENST00000698636.1:n.1846+93T>C
ENST00000425368.7:c.1624+93T>C MANE Select	ENSP00000416561.2:n.1624+93T>C
ENST00000425368.6:c.1624+93T>C	ENSP00000416561.2:n.1624+93T>C
ENST00000452035.6:n.1717T>C
ENST00000456570.5:c.3130+93T>C	ENSP00000410815.1:n.3130+93T>C
ENST00000467360.1:n.628T>C
ENST00000477310.1:c.2677+93T>C	ENSP00000418996.1:n.2677+93T>C
ENST00000483004.1:c.247-123T>C
NM_001710.5:c.1624+93T>C , LRG_136t1:c.1624+93T>C	NP_001701.2:n.1624+93T>C
NM_001710.6:c.1624+93T>C MANE Select	NP_001701.2:n.1624+93T>C