Canonical Allele Identifier: CA449812029
Gene: CFB HGNC NCBI

Linked Data

gnomAD v4: 6-31950623-G-A
MyVariant Identifiers: chr6:g.31918400G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950623G>A , CM000668.2:g.31950623G>A GRCh38
NC_000006.11:g.31918400G>A , CM000668.1:g.31918400G>A GRCh37
NC_000006.10:g.32026379G>A NCBI36
NG_008191.1:g.9680G>A , LRG_136:g.9680G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2021G>A
ENST00000483004.2:c.1413G>A ENSP00000419887.2:p.Gly471=
ENST00000698628.1:c.1624+220G>A ENSP00000513848.1:n.1624+220G>A
ENST00000698629.1:n.1806G>A
ENST00000698630.1:n.2345G>A
ENST00000698631.1:n.2346G>A
ENST00000698632.1:n.3140G>A
ENST00000698633.1:n.3030G>A
ENST00000698636.1:n.1851G>A
ENST00000425368.7:c.1629G>A MANE Select ENSP00000416561.2:p.Gly543=
ENST00000425368.6:c.1629G>A ENSP00000416561.2:p.Gly543=
ENST00000452035.6:n.1844G>A
ENST00000456570.5:c.3135G>A ENSP00000410815.1:p.Gly1045=
ENST00000467360.1:n.755G>A
ENST00000477310.1:c.2682G>A ENSP00000418996.1:p.Gly894=
ENST00000483004.1:c.251G>A
NM_001710.5:c.1629G>A , LRG_136t1:c.1629G>A NP_001701.2:p.Gly543=
NM_001710.6:c.1629G>A MANE Select NP_001701.2:p.Gly543=