Canonical Allele Identifier: CA343219977
Gene: CFAP45 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886643A>T , CM000663.2:g.159886643A>T GRCh38
NC_000001.10:g.159856433A>T , CM000663.1:g.159856433A>T GRCh37
NC_000001.9:g.158123057A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.635T>A MANE Select ENSP00000357079.4:p.Leu212Gln
ENST00000368099.8:c.635T>A ENSP00000357079.4:p.Leu212Gln
ENST00000426543.6:c.380T>A ENSP00000403044.2:p.Leu127Gln
ENST00000476696.5:c.635T>A ENSP00000483972.1:p.Leu212Gln
ENST00000479940.2:c.380T>A ENSP00000478944.1:p.Leu127Gln
NM_012337.2:c.635T>A NP_036469.2:p.Leu212Gln
NM_012337.3:c.635T>A MANE Select NP_036469.2:p.Leu212Gln