Canonical Allele Identifier: CA185745382
Gene: CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs777695812
gnomAD v3: 8-127472775-T-C
gnomAD v4: 8-127472775-T-C
MyVariant Identifiers: chr8:g.128485020T>C (hg19) chr8:g.127472775T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127472775T>C , CM000670.2:g.127472775T>C GRCh38
NC_000008.10:g.128485020T>C , CM000670.1:g.128485020T>C GRCh37
NC_000008.9:g.128554202T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_024393.1:n.1041+6308A>G
NR_117100.1:n.1041+6308A>G
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