Canonical Allele Identifier: CA823922991

Gene: CFB

Linked Data

• dbSNP Id: rs1341897732
• gnomAD v4: 6-31950825-G-T
• MyVariant Identifiers: chr6:g.31918602G>T (hg19) ; chr6:g.31950825G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950825G>T , CM000668.2:g.31950825G>T	GRCh38
NC_000006.11:g.31918602G>T , CM000668.1:g.31918602G>T	GRCh37
NC_000006.10:g.32026581G>T	NCBI36
NG_008191.1:g.9882G>T , LRG_136:g.9882G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2223G>T
ENST00000483004.2:c.1563-43G>T	ENSP00000419887.2:n.1563-43G>T
ENST00000698628.1:c.1625-319G>T	ENSP00000513848.1:n.1625-319G>T
ENST00000698629.1:n.2008G>T
ENST00000698630.1:n.2495-43G>T
ENST00000698631.1:n.2496-43G>T
ENST00000698632.1:n.3342G>T
ENST00000698633.1:n.3232G>T
ENST00000425368.7:c.1779-43G>T MANE Select	ENSP00000416561.2:n.1779-43G>T
ENST00000425368.6:c.1779-43G>T	ENSP00000416561.2:n.1779-43G>T
ENST00000456570.5:c.3285-43G>T	ENSP00000410815.1:n.3285-43G>T
ENST00000467360.1:n.905-43G>T
ENST00000477310.1:c.2832-43G>T	ENSP00000418996.1:n.2832-43G>T
ENST00000483004.1:c.401-43G>T
NM_001710.5:c.1779-43G>T , LRG_136t1:c.1779-43G>T	NP_001701.2:n.1779-43G>T
NM_001710.6:c.1779-43G>T MANE Select	NP_001701.2:n.1779-43G>T