Canonical Allele Identifier: CA185745366
Gene: CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1053927841
gnomAD v3: 8-127472672-T-C
gnomAD v4: 8-127472672-T-C
MyVariant Identifiers: chr8:g.128484917T>C (hg19) chr8:g.127472672T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127472672T>C , CM000670.2:g.127472672T>C GRCh38
NC_000008.10:g.128484917T>C , CM000670.1:g.128484917T>C GRCh37
NC_000008.9:g.128554099T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_024393.1:n.1041+6411A>G
NR_117100.1:n.1041+6411A>G
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