Canonical Allele Identifier: CA343219748
Gene: CFAP45 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.159856332G>T (hg19) chr1:g.159886542G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886542G>T , CM000663.2:g.159886542G>T GRCh38
NC_000001.10:g.159856332G>T , CM000663.1:g.159856332G>T GRCh37
NC_000001.9:g.158122956G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.736C>A MANE Select ENSP00000357079.4:p.Leu246Met
ENST00000368099.8:c.736C>A ENSP00000357079.4:p.Leu246Met
ENST00000426543.6:c.481C>A ENSP00000403044.2:p.Leu161Met
ENST00000476696.5:c.736C>A ENSP00000483972.1:p.Leu246Met
NM_012337.2:c.736C>A NP_036469.2:p.Leu246Met
NM_012337.3:c.736C>A MANE Select NP_036469.2:p.Leu246Met
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Search 100 bp 3'