Canonical Allele Identifier: CA343219773
Gene: CFAP45 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886553C>G , CM000663.2:g.159886553C>G GRCh38
NC_000001.10:g.159856343C>G , CM000663.1:g.159856343C>G GRCh37
NC_000001.9:g.158122967C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.725G>C MANE Select ENSP00000357079.4:p.Arg242Thr
ENST00000368099.8:c.725G>C ENSP00000357079.4:p.Arg242Thr
ENST00000426543.6:c.470G>C ENSP00000403044.2:p.Arg157Thr
ENST00000476696.5:c.725G>C ENSP00000483972.1:p.Arg242Thr
NM_012337.2:c.725G>C NP_036469.2:p.Arg242Thr
NM_012337.3:c.725G>C MANE Select NP_036469.2:p.Arg242Thr