Canonical Allele Identifier: CA343219874
Gene: CFAP45 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886596A>T , CM000663.2:g.159886596A>T GRCh38
NC_000001.10:g.159856386A>T , CM000663.1:g.159856386A>T GRCh37
NC_000001.9:g.158123010A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.682T>A MANE Select ENSP00000357079.4:p.Leu228Met
ENST00000368099.8:c.682T>A ENSP00000357079.4:p.Leu228Met
ENST00000426543.6:c.427T>A ENSP00000403044.2:p.Leu143Met
ENST00000476696.5:c.682T>A ENSP00000483972.1:p.Leu228Met
NM_012337.2:c.682T>A NP_036469.2:p.Leu228Met
NM_012337.3:c.682T>A MANE Select NP_036469.2:p.Leu228Met