Canonical Allele Identifier: CA363409477

Gene: CFB

Linked Data

• dbSNP Id: rs1249076397
• gnomAD v2: 6-31918547-C-G
• gnomAD v4: 6-31950770-C-G
• MyVariant Identifiers: chr6:g.31918547C>G (hg19) ; chr6:g.31950770C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950770C>G , CM000668.2:g.31950770C>G	GRCh38
NC_000006.11:g.31918547C>G , CM000668.1:g.31918547C>G	GRCh37
NC_000006.10:g.32026526C>G	NCBI36
NG_008191.1:g.9827C>G , LRG_136:g.9827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2168C>G
ENST00000483004.2:c.1560C>G	ENSP00000419887.2:p.Ile520Met
ENST00000698628.1:c.1624+367C>G	ENSP00000513848.1:n.1624+367C>G
ENST00000698629.1:n.1953C>G
ENST00000698630.1:n.2492C>G
ENST00000698631.1:n.2493C>G
ENST00000698632.1:n.3287C>G
ENST00000698633.1:n.3177C>G
ENST00000698636.1:n.1998C>G
ENST00000425368.7:c.1776C>G MANE Select	ENSP00000416561.2:p.Ile592Met
ENST00000425368.6:c.1776C>G	ENSP00000416561.2:p.Ile592Met
ENST00000456570.5:c.3282C>G	ENSP00000410815.1:p.Ile1094Met
ENST00000467360.1:n.902C>G
ENST00000477310.1:c.2829C>G	ENSP00000418996.1:p.Ile943Met
ENST00000483004.1:c.398C>G
NM_001710.5:c.1776C>G , LRG_136t1:c.1776C>G	NP_001701.2:p.Ile592Met
NM_001710.6:c.1776C>G MANE Select	NP_001701.2:p.Ile592Met