Canonical Allele Identifier: CA847168620

Gene: CASC8

Linked Data

• dbSNP Id: rs1448693129
• gnomAD v3: 8-127473827-T-C
• gnomAD v4: 8-127473827-T-C
• MyVariant Identifiers: chr8:g.128486072T>C (hg19) ; chr8:g.127473827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127473827T>C , CM000670.2:g.127473827T>C	GRCh38
NC_000008.10:g.128486072T>C , CM000670.1:g.128486072T>C	GRCh37
NC_000008.9:g.128555254T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_024393.1:n.1041+5256A>G
NR_117100.1:n.1041+5256A>G