Canonical Allele Identifier: CA2573933918
Gene: CFAP45 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886454G>T , CM000663.2:g.159886454G>T GRCh38
NC_000001.10:g.159856244G>T , CM000663.1:g.159856244G>T GRCh37
NC_000001.9:g.158122868G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.767+57C>A MANE Select ENSP00000357079.4:n.767+57C>A
ENST00000368099.8:c.767+57C>A ENSP00000357079.4:n.767+57C>A
ENST00000426543.6:c.512+57C>A ENSP00000403044.2:n.512+57C>A
ENST00000476696.5:c.767+57C>A ENSP00000483972.1:n.767+57C>A
NM_012337.2:c.767+57C>A NP_036469.2:n.767+57C>A
NM_012337.3:c.767+57C>A MANE Select NP_036469.2:n.767+57C>A
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