Canonical Allele Identifier: CA343219826
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs1649692699
gnomAD v4: 1-159886578-C-T
COSMIC: COSM5757765
MyVariant Identifiers: chr1:g.159856368C>T (hg19) chr1:g.159886578C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886578C>T , CM000663.2:g.159886578C>T GRCh38
NC_000001.10:g.159856368C>T , CM000663.1:g.159856368C>T GRCh37
NC_000001.9:g.158122992C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.700G>A MANE Select ENSP00000357079.4:p.Val234Met
ENST00000368099.8:c.700G>A ENSP00000357079.4:p.Val234Met
ENST00000426543.6:c.445G>A ENSP00000403044.2:p.Val149Met
ENST00000476696.5:c.700G>A ENSP00000483972.1:p.Val234Met
NM_012337.2:c.700G>A NP_036469.2:p.Val234Met
NM_012337.3:c.700G>A MANE Select NP_036469.2:p.Val234Met
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Search 100 bp 3'