Canonical Allele Identifier: CA136898099

Gene: CFB

Linked Data

• dbSNP Id: rs572679062
• gnomAD v2: 6-31918888-G-C
• gnomAD v3: 6-31951111-G-C
• gnomAD v4: 6-31951111-G-C
• MyVariant Identifiers: chr6:g.31918888G>C (hg19) ; chr6:g.31951111G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951111G>C , CM000668.2:g.31951111G>C	GRCh38
NC_000006.11:g.31918888G>C , CM000668.1:g.31918888G>C	GRCh37
NC_000006.10:g.32026867G>C	NCBI36
NG_008191.1:g.10168G>C , LRG_136:g.10168G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-86G>C
ENST00000483004.2:c.1640-33G>C	ENSP00000419887.2:n.1640-33G>C
ENST00000698628.1:c.1625-33G>C	ENSP00000513848.1:n.1625-33G>C
ENST00000698629.1:n.2128-86G>C
ENST00000698630.1:n.2572-33G>C
ENST00000698631.1:n.2573-33G>C
ENST00000698632.1:n.3628G>C
ENST00000698633.1:n.3518G>C
ENST00000425368.7:c.1856-33G>C MANE Select	ENSP00000416561.2:n.1856-33G>C
ENST00000425368.6:c.1856-33G>C	ENSP00000416561.2:n.1856-33G>C
ENST00000456570.5:c.3362-33G>C	ENSP00000410815.1:n.3362-33G>C
ENST00000467360.1:n.982-33G>C
ENST00000477310.1:c.2909-33G>C	ENSP00000418996.1:n.2909-33G>C
ENST00000482312.1:n.238G>C
ENST00000483004.1:c.478-33G>C
NM_001710.5:c.1856-33G>C , LRG_136t1:c.1856-33G>C	NP_001701.2:n.1856-33G>C
NM_001710.6:c.1856-33G>C MANE Select	NP_001701.2:n.1856-33G>C