Canonical Allele Identifier: CA2678074412

Gene: CFB

Linked Data

• gnomAD v4: 6-31950947-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950947A>C , CM000668.2:g.31950947A>C	GRCh38
NC_000006.11:g.31918724A>C , CM000668.1:g.31918724A>C	GRCh37
NC_000006.10:g.32026703A>C	NCBI36
NG_008191.1:g.10004A>C , LRG_136:g.10004A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+3A>C
ENST00000483004.2:c.1639+3A>C	ENSP00000419887.2:n.1639+3A>C
ENST00000698628.1:c.1625-197A>C	ENSP00000513848.1:n.1625-197A>C
ENST00000698629.1:n.2127+3A>C
ENST00000698630.1:n.2571+3A>C
ENST00000698631.1:n.2572+3A>C
ENST00000698632.1:n.3464A>C
ENST00000698633.1:n.3354A>C
ENST00000425368.7:c.1855+3A>C MANE Select	ENSP00000416561.2:n.1855+3A>C
ENST00000425368.6:c.1855+3A>C	ENSP00000416561.2:n.1855+3A>C
ENST00000456570.5:c.3361+3A>C	ENSP00000410815.1:n.3361+3A>C
ENST00000467360.1:n.981+3A>C
ENST00000477310.1:c.2908+3A>C	ENSP00000418996.1:n.2908+3A>C
ENST00000482312.1:n.74A>C
ENST00000483004.1:c.477+3A>C
NM_001710.5:c.1855+3A>C , LRG_136t1:c.1855+3A>C	NP_001701.2:n.1855+3A>C
NM_001710.6:c.1855+3A>C MANE Select	NP_001701.2:n.1855+3A>C