Canonical Allele Identifier: CA650552629
Gene: CFB HGNC NCBI

Linked Data

gnomAD v4: 6-31950594-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950594G>C , CM000668.2:g.31950594G>C GRCh38
NC_000006.11:g.31918371G>C , CM000668.1:g.31918371G>C GRCh37
NC_000006.10:g.32026350G>C NCBI36
NG_008191.1:g.9651G>C , LRG_136:g.9651G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.1992G>C
ENST00000483004.2:c.1409-25G>C ENSP00000419887.2:n.1409-25G>C
ENST00000698628.1:c.1624+191G>C ENSP00000513848.1:n.1624+191G>C
ENST00000698629.1:n.1802-25G>C
ENST00000698630.1:n.2341-25G>C
ENST00000698631.1:n.2342-25G>C
ENST00000698632.1:n.3111G>C
ENST00000698633.1:n.3001G>C
ENST00000698636.1:n.1847-25G>C
ENST00000425368.7:c.1625-25G>C MANE Select ENSP00000416561.2:n.1625-25G>C
ENST00000425368.6:c.1625-25G>C ENSP00000416561.2:n.1625-25G>C
ENST00000452035.6:n.1815G>C
ENST00000456570.5:c.3131-25G>C ENSP00000410815.1:n.3131-25G>C
ENST00000467360.1:n.726G>C
ENST00000477310.1:c.2678-25G>C ENSP00000418996.1:n.2678-25G>C
ENST00000483004.1:c.247-25G>C
NM_001710.5:c.1625-25G>C , LRG_136t1:c.1625-25G>C NP_001701.2:n.1625-25G>C
NM_001710.6:c.1625-25G>C MANE Select NP_001701.2:n.1625-25G>C