Canonical Allele Identifier: CA449812026
Gene: CFB HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31918397A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950620A>G , CM000668.2:g.31950620A>G GRCh38
NC_000006.11:g.31918397A>G , CM000668.1:g.31918397A>G GRCh37
NC_000006.10:g.32026376A>G NCBI36
NG_008191.1:g.9677A>G , LRG_136:g.9677A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2018A>G
ENST00000483004.2:c.1410A>G ENSP00000419887.2:p.Gly470=
ENST00000698628.1:c.1624+217A>G ENSP00000513848.1:n.1624+217A>G
ENST00000698629.1:n.1803A>G
ENST00000698630.1:n.2342A>G
ENST00000698631.1:n.2343A>G
ENST00000698632.1:n.3137A>G
ENST00000698633.1:n.3027A>G
ENST00000698636.1:n.1848A>G
ENST00000425368.7:c.1626A>G MANE Select ENSP00000416561.2:p.Gly542=
ENST00000425368.6:c.1626A>G ENSP00000416561.2:p.Gly542=
ENST00000452035.6:n.1841A>G
ENST00000456570.5:c.3132A>G ENSP00000410815.1:p.Gly1044=
ENST00000467360.1:n.752A>G
ENST00000477310.1:c.2679A>G ENSP00000418996.1:p.Gly893=
ENST00000483004.1:c.248A>G
NM_001710.5:c.1626A>G , LRG_136t1:c.1626A>G NP_001701.2:p.Gly542=
NM_001710.6:c.1626A>G MANE Select NP_001701.2:p.Gly542=