Canonical Allele Identifier: CA185745498
Gene: CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs527605300
gnomAD v2: 8-128486040-A-G
gnomAD v3: 8-127473795-A-G
gnomAD v4: 8-127473795-A-G
MyVariant Identifiers: chr8:g.128486040A>G (hg19) chr8:g.127473795A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127473795A>G , CM000670.2:g.127473795A>G GRCh38
NC_000008.10:g.128486040A>G , CM000670.1:g.128486040A>G GRCh37
NC_000008.9:g.128555222A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_024393.1:n.1041+5288T>C
NR_117100.1:n.1041+5288T>C
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