Canonical Allele Identifier: CA363408997
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs1220094942
gnomAD v2: 6-31918476-A-C
gnomAD v3: 6-31950699-A-C
gnomAD v4: 6-31950699-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950699A>C , CM000668.2:g.31950699A>C GRCh38
NC_000006.11:g.31918476A>C , CM000668.1:g.31918476A>C GRCh37
NC_000006.10:g.32026455A>C NCBI36
NG_008191.1:g.9756A>C , LRG_136:g.9756A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2097A>C
ENST00000483004.2:c.1489A>C ENSP00000419887.2:p.Ile497Leu
ENST00000698628.1:c.1624+296A>C ENSP00000513848.1:n.1624+296A>C
ENST00000698629.1:n.1882A>C
ENST00000698630.1:n.2421A>C
ENST00000698631.1:n.2422A>C
ENST00000698632.1:n.3216A>C
ENST00000698633.1:n.3106A>C
ENST00000698636.1:n.1927A>C
ENST00000425368.7:c.1705A>C MANE Select ENSP00000416561.2:p.Ile569Leu
ENST00000425368.6:c.1705A>C ENSP00000416561.2:p.Ile569Leu
ENST00000456570.5:c.3211A>C ENSP00000410815.1:p.Ile1071Leu
ENST00000467360.1:n.831A>C
ENST00000477310.1:c.2758A>C ENSP00000418996.1:p.Ile920Leu
ENST00000483004.1:c.327A>C
NM_001710.5:c.1705A>C , LRG_136t1:c.1705A>C NP_001701.2:p.Ile569Leu
NM_001710.6:c.1705A>C MANE Select NP_001701.2:p.Ile569Leu