Canonical Allele Identifier: CA2678073585

Gene: CFB

Linked Data

• gnomAD v4: 6-31950411-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950411T>A , CM000668.2:g.31950411T>A	GRCh38
NC_000006.11:g.31918188T>A , CM000668.1:g.31918188T>A	GRCh37
NC_000006.10:g.32026167T>A	NCBI36
NG_008191.1:g.9468T>A , LRG_136:g.9468T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1809T>A
ENST00000483004.2:c.1409-208T>A	ENSP00000419887.2:n.1409-208T>A
ENST00000698628.1:c.1624+8T>A	ENSP00000513848.1:n.1624+8T>A
ENST00000698629.1:n.1801+8T>A
ENST00000698630.1:n.2340+8T>A
ENST00000698631.1:n.2341+8T>A
ENST00000698632.1:n.2928T>A
ENST00000698633.1:n.2818T>A
ENST00000698636.1:n.1846+8T>A
ENST00000425368.7:c.1624+8T>A MANE Select	ENSP00000416561.2:n.1624+8T>A
ENST00000425368.6:c.1624+8T>A	ENSP00000416561.2:n.1624+8T>A
ENST00000452035.6:n.1632T>A
ENST00000456570.5:c.3130+8T>A	ENSP00000410815.1:n.3130+8T>A
ENST00000467360.1:n.543T>A
ENST00000477310.1:c.2677+8T>A	ENSP00000418996.1:n.2677+8T>A
ENST00000483004.1:c.247-208T>A
NM_001710.5:c.1624+8T>A , LRG_136t1:c.1624+8T>A	NP_001701.2:n.1624+8T>A
NM_001710.6:c.1624+8T>A MANE Select	NP_001701.2:n.1624+8T>A