Canonical Allele Identifier: CA2678073722

Gene: CFB

Linked Data

• gnomAD v4: 6-31950500-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950500G>A , CM000668.2:g.31950500G>A	GRCh38
NC_000006.11:g.31918277G>A , CM000668.1:g.31918277G>A	GRCh37
NC_000006.10:g.32026256G>A	NCBI36
NG_008191.1:g.9557G>A , LRG_136:g.9557G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1898G>A
ENST00000483004.2:c.1409-119G>A	ENSP00000419887.2:n.1409-119G>A
ENST00000698628.1:c.1624+97G>A	ENSP00000513848.1:n.1624+97G>A
ENST00000698629.1:n.1801+97G>A
ENST00000698630.1:n.2340+97G>A
ENST00000698631.1:n.2341+97G>A
ENST00000698632.1:n.3017G>A
ENST00000698633.1:n.2907G>A
ENST00000698636.1:n.1846+97G>A
ENST00000425368.7:c.1624+97G>A MANE Select	ENSP00000416561.2:n.1624+97G>A
ENST00000425368.6:c.1624+97G>A	ENSP00000416561.2:n.1624+97G>A
ENST00000452035.6:n.1721G>A
ENST00000456570.5:c.3130+97G>A	ENSP00000410815.1:n.3130+97G>A
ENST00000467360.1:n.632G>A
ENST00000477310.1:c.2677+97G>A	ENSP00000418996.1:n.2677+97G>A
ENST00000483004.1:c.247-119G>A
NM_001710.5:c.1624+97G>A , LRG_136t1:c.1624+97G>A	NP_001701.2:n.1624+97G>A
NM_001710.6:c.1624+97G>A MANE Select	NP_001701.2:n.1624+97G>A