Canonical Allele Identifier: CA136897314

Gene: CFB

Linked Data

• ClinVar Variation Id: 1905085
• ClinVar RCV Id: RCV002580609
• dbSNP Id: rs775416425
• gnomAD v2: 6-31918193-C-T
• gnomAD v3: 6-31950416-C-T
• gnomAD v4: 6-31950416-C-T
• MyVariant Identifiers: chr6:g.31918193C>T (hg19) ; chr6:g.31950416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950416C>T , CM000668.2:g.31950416C>T	GRCh38
NC_000006.11:g.31918193C>T , CM000668.1:g.31918193C>T	GRCh37
NC_000006.10:g.32026172C>T	NCBI36
NG_008191.1:g.9473C>T , LRG_136:g.9473C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1814C>T
ENST00000483004.2:c.1409-203C>T	ENSP00000419887.2:n.1409-203C>T
ENST00000698628.1:c.1624+13C>T	ENSP00000513848.1:n.1624+13C>T
ENST00000698629.1:n.1801+13C>T
ENST00000698630.1:n.2340+13C>T
ENST00000698631.1:n.2341+13C>T
ENST00000698632.1:n.2933C>T
ENST00000698633.1:n.2823C>T
ENST00000698636.1:n.1846+13C>T
ENST00000425368.7:c.1624+13C>T MANE Select	ENSP00000416561.2:n.1624+13C>T
ENST00000425368.6:c.1624+13C>T	ENSP00000416561.2:n.1624+13C>T
ENST00000452035.6:n.1637C>T
ENST00000456570.5:c.3130+13C>T	ENSP00000410815.1:n.3130+13C>T
ENST00000467360.1:n.548C>T
ENST00000477310.1:c.2677+13C>T	ENSP00000418996.1:n.2677+13C>T
ENST00000483004.1:c.247-203C>T
NM_001710.5:c.1624+13C>T , LRG_136t1:c.1624+13C>T	NP_001701.2:n.1624+13C>T
NM_001710.6:c.1624+13C>T MANE Select	NP_001701.2:n.1624+13C>T