Canonical Allele Identifier: CA343219952
Gene: CFAP45 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886632G>C , CM000663.2:g.159886632G>C GRCh38
NC_000001.10:g.159856422G>C , CM000663.1:g.159856422G>C GRCh37
NC_000001.9:g.158123046G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.646C>G MANE Select ENSP00000357079.4:p.Gln216Glu
ENST00000368099.8:c.646C>G ENSP00000357079.4:p.Gln216Glu
ENST00000426543.6:c.391C>G ENSP00000403044.2:p.Gln131Glu
ENST00000476696.5:c.646C>G ENSP00000483972.1:p.Gln216Glu
ENST00000479940.2:c.391C>G ENSP00000478944.1:p.Gln131Glu
NM_012337.2:c.646C>G NP_036469.2:p.Gln216Glu
NM_012337.3:c.646C>G MANE Select NP_036469.2:p.Gln216Glu