Canonical Allele Identifier: CA343219926
Gene: CFAP45 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886622T>A , CM000663.2:g.159886622T>A GRCh38
NC_000001.10:g.159856412T>A , CM000663.1:g.159856412T>A GRCh37
NC_000001.9:g.158123036T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.656A>T MANE Select ENSP00000357079.4:p.Lys219Ile
ENST00000368099.8:c.656A>T ENSP00000357079.4:p.Lys219Ile
ENST00000426543.6:c.401A>T ENSP00000403044.2:p.Lys134Ile
ENST00000476696.5:c.656A>T ENSP00000483972.1:p.Lys219Ile
ENST00000479940.2:c.401A>T ENSP00000478944.1:p.Lys134Ile
NM_012337.2:c.656A>T NP_036469.2:p.Lys219Ile
NM_012337.3:c.656A>T MANE Select NP_036469.2:p.Lys219Ile