Canonical Allele Identifier: CA847168551

Gene: CASC8

Linked Data

• dbSNP Id: rs1347234630
• gnomAD v2: 8-128485940-C-T
• gnomAD v3: 8-127473695-C-T
• gnomAD v4: 8-127473695-C-T
• MyVariant Identifiers: chr8:g.128485940C>T (hg19) ; chr8:g.127473695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127473695C>T , CM000670.2:g.127473695C>T	GRCh38
NC_000008.10:g.128485940C>T , CM000670.1:g.128485940C>T	GRCh37
NC_000008.9:g.128555122C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_024393.1:n.1041+5388G>A
NR_117100.1:n.1041+5388G>A