Canonical Allele Identifier: CA3728483

Gene: CFB

Linked Data

• ClinVar Variation Id: 2192642
• ClinVar RCV Id: RCV002623753
• dbSNP Id: rs757245217
• ExAC: 6:31918914 C / T
• gnomAD v2: 6-31918914-C-T
• gnomAD v3: 6-31951137-C-T
• gnomAD v4: 6-31951137-C-T
• MyVariant Identifiers: chr6:g.31918914C>T (hg19) ; chr6:g.31951137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951137C>T , CM000668.2:g.31951137C>T	GRCh38
NC_000006.11:g.31918914C>T , CM000668.1:g.31918914C>T	GRCh37
NC_000006.10:g.32026893C>T	NCBI36
NG_008191.1:g.10194C>T , LRG_136:g.10194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-60C>T
ENST00000483004.2:c.1640-7C>T	ENSP00000419887.2:n.1640-7C>T
ENST00000698628.1:c.1625-7C>T	ENSP00000513848.1:n.1625-7C>T
ENST00000698629.1:n.2128-60C>T
ENST00000698630.1:n.2572-7C>T
ENST00000698631.1:n.2573-7C>T
ENST00000698632.1:n.3654C>T
ENST00000698633.1:n.3544C>T
ENST00000425368.7:c.1856-7C>T MANE Select	ENSP00000416561.2:n.1856-7C>T
ENST00000425368.6:c.1856-7C>T	ENSP00000416561.2:n.1856-7C>T
ENST00000456570.5:c.3362-7C>T	ENSP00000410815.1:n.3362-7C>T
ENST00000467360.1:n.982-7C>T
ENST00000477310.1:c.2909-7C>T	ENSP00000418996.1:n.2909-7C>T
ENST00000482312.1:n.264C>T
ENST00000483004.1:c.478-7C>T
NM_001710.5:c.1856-7C>T , LRG_136t1:c.1856-7C>T	NP_001701.2:n.1856-7C>T
NM_001710.6:c.1856-7C>T MANE Select	NP_001701.2:n.1856-7C>T