Canonical Allele Identifier: CA293056206
Gene: CASC17 HGNC NCBI

Linked Data

dbSNP Id: rs547428473
gnomAD v2: 17-69108499-C-T
gnomAD v3: 17-71112358-C-T
gnomAD v4: 17-71112358-C-T
MyVariant Identifiers: chr17:g.69108499C>T (hg19) chr17:g.71112358C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.71112358C>T , CM000679.2:g.71112358C>T GRCh38
NC_000017.10:g.69108499C>T , CM000679.1:g.69108499C>T GRCh37
NC_000017.9:g.66620094C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_104152.1:n.218-12740G>A
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