Canonical Allele Identifier: CA185745482

Gene: CASC8

Linked Data

• dbSNP Id: rs557659274
• gnomAD v2: 8-128485943-C-T
• gnomAD v3: 8-127473698-C-T
• gnomAD v4: 8-127473698-C-T
• MyVariant Identifiers: chr8:g.128485943C>T (hg19) ; chr8:g.127473698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127473698C>T , CM000670.2:g.127473698C>T	GRCh38
NC_000008.10:g.128485943C>T , CM000670.1:g.128485943C>T	GRCh37
NC_000008.9:g.128555125C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_024393.1:n.1041+5385G>A
NR_117100.1:n.1041+5385G>A