Canonical Allele Identifier: CA343219943
Gene: CFAP45 HGNC NCBI

Linked Data

gnomAD v4: 1-159886629-T-A
MyVariant Identifiers: chr1:g.159856419T>A (hg19) chr1:g.159886629T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886629T>A , CM000663.2:g.159886629T>A GRCh38
NC_000001.10:g.159856419T>A , CM000663.1:g.159856419T>A GRCh37
NC_000001.9:g.158123043T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.649A>T MANE Select ENSP00000357079.4:p.Ile217Phe
ENST00000368099.8:c.649A>T ENSP00000357079.4:p.Ile217Phe
ENST00000426543.6:c.394A>T ENSP00000403044.2:p.Ile132Phe
ENST00000476696.5:c.649A>T ENSP00000483972.1:p.Ile217Phe
ENST00000479940.2:c.394A>T ENSP00000478944.1:p.Ile132Phe
NM_012337.2:c.649A>T NP_036469.2:p.Ile217Phe
NM_012337.3:c.649A>T MANE Select NP_036469.2:p.Ile217Phe
Search 100 bp 5'
Search 100 bp 3'