Canonical Allele Identifier: CA2678074429

Gene: CFB

Linked Data

• gnomAD v4: 6-31951001-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951001G>A , CM000668.2:g.31951001G>A	GRCh38
NC_000006.11:g.31918778G>A , CM000668.1:g.31918778G>A	GRCh37
NC_000006.10:g.32026757G>A	NCBI36
NG_008191.1:g.10058G>A , LRG_136:g.10058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+57G>A
ENST00000483004.2:c.1639+57G>A	ENSP00000419887.2:n.1639+57G>A
ENST00000698628.1:c.1625-143G>A	ENSP00000513848.1:n.1625-143G>A
ENST00000698629.1:n.2127+57G>A
ENST00000698630.1:n.2571+57G>A
ENST00000698631.1:n.2572+57G>A
ENST00000698632.1:n.3518G>A
ENST00000698633.1:n.3408G>A
ENST00000425368.7:c.1855+57G>A MANE Select	ENSP00000416561.2:n.1855+57G>A
ENST00000425368.6:c.1855+57G>A	ENSP00000416561.2:n.1855+57G>A
ENST00000456570.5:c.3361+57G>A	ENSP00000410815.1:n.3361+57G>A
ENST00000467360.1:n.981+57G>A
ENST00000477310.1:c.2908+57G>A	ENSP00000418996.1:n.2908+57G>A
ENST00000482312.1:n.128G>A
ENST00000483004.1:c.477+57G>A
NM_001710.5:c.1855+57G>A , LRG_136t1:c.1855+57G>A	NP_001701.2:n.1855+57G>A
NM_001710.6:c.1855+57G>A MANE Select	NP_001701.2:n.1855+57G>A