Canonical Allele Identifier: CA585069757

Gene: CASC8

Linked Data

• gnomAD v2: 8-128485951-C-T
• MyVariant Identifiers: chr8:g.128485951C>T (hg19) ; chr8:g.127473706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127473706C>T , CM000670.2:g.127473706C>T	GRCh38
NC_000008.10:g.128485951C>T , CM000670.1:g.128485951C>T	GRCh37
NC_000008.9:g.128555133C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_024393.1:n.1041+5377G>A
NR_117100.1:n.1041+5377G>A