Canonical Allele Identifier: CA2678073596

Gene: CFB

Linked Data

• gnomAD v4: 6-31950419-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950419A>G , CM000668.2:g.31950419A>G	GRCh38
NC_000006.11:g.31918196A>G , CM000668.1:g.31918196A>G	GRCh37
NC_000006.10:g.32026175A>G	NCBI36
NG_008191.1:g.9476A>G , LRG_136:g.9476A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1817A>G
ENST00000483004.2:c.1409-200A>G	ENSP00000419887.2:n.1409-200A>G
ENST00000698628.1:c.1624+16A>G	ENSP00000513848.1:n.1624+16A>G
ENST00000698629.1:n.1801+16A>G
ENST00000698630.1:n.2340+16A>G
ENST00000698631.1:n.2341+16A>G
ENST00000698632.1:n.2936A>G
ENST00000698633.1:n.2826A>G
ENST00000698636.1:n.1846+16A>G
ENST00000425368.7:c.1624+16A>G MANE Select	ENSP00000416561.2:n.1624+16A>G
ENST00000425368.6:c.1624+16A>G	ENSP00000416561.2:n.1624+16A>G
ENST00000452035.6:n.1640A>G
ENST00000456570.5:c.3130+16A>G	ENSP00000410815.1:n.3130+16A>G
ENST00000467360.1:n.551A>G
ENST00000477310.1:c.2677+16A>G	ENSP00000418996.1:n.2677+16A>G
ENST00000483004.1:c.247-200A>G
NM_001710.5:c.1624+16A>G , LRG_136t1:c.1624+16A>G	NP_001701.2:n.1624+16A>G
NM_001710.6:c.1624+16A>G MANE Select	NP_001701.2:n.1624+16A>G