Canonical Allele Identifier: CA3728463

Gene: CFB

Linked Data

• ClinVar Variation Id: 907233
• ClinVar RCV Id: RCV001156915 ; RCV001156914 ; RCV002070929 ; RCV004032822
• dbSNP Id: rs201754399
• ExAC: 6:31918704 C / T
• gnomAD v2: 6-31918704-C-T
• gnomAD v3: 6-31950927-C-T
• gnomAD v4: 6-31950927-C-T
• MyVariant Identifiers: chr6:g.31918704C>T (hg19) ; chr6:g.31950927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950927C>T , CM000668.2:g.31950927C>T	GRCh38
NC_000006.11:g.31918704C>T , CM000668.1:g.31918704C>T	GRCh37
NC_000006.10:g.32026683C>T	NCBI36
NG_008191.1:g.9984C>T , LRG_136:g.9984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2325C>T
ENST00000483004.2:c.1622C>T	ENSP00000419887.2:p.Thr541Ile
ENST00000698628.1:c.1625-217C>T	ENSP00000513848.1:n.1625-217C>T
ENST00000698629.1:n.2110C>T
ENST00000698630.1:n.2554C>T
ENST00000698631.1:n.2555C>T
ENST00000698632.1:n.3444C>T
ENST00000698633.1:n.3334C>T
ENST00000425368.7:c.1838C>T MANE Select	ENSP00000416561.2:p.Thr613Ile
ENST00000425368.6:c.1838C>T	ENSP00000416561.2:p.Thr613Ile
ENST00000456570.5:c.3344C>T	ENSP00000410815.1:p.Thr1115Ile
ENST00000467360.1:n.964C>T
ENST00000477310.1:c.2891C>T	ENSP00000418996.1:p.Thr964Ile
ENST00000482312.1:n.54C>T
ENST00000483004.1:c.460C>T
NM_001710.5:c.1838C>T , LRG_136t1:c.1838C>T	NP_001701.2:p.Thr613Ile
NM_001710.6:c.1838C>T MANE Select	NP_001701.2:p.Thr613Ile