Canonical Allele Identifier: CA847166734
Gene: CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1035874513
gnomAD v3: 8-127472619-A-C
gnomAD v4: 8-127472619-A-C
MyVariant Identifiers: chr8:g.128484864A>C (hg19) chr8:g.127472619A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127472619A>C , CM000670.2:g.127472619A>C GRCh38
NC_000008.10:g.128484864A>C , CM000670.1:g.128484864A>C GRCh37
NC_000008.9:g.128554046A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_024393.1:n.1041+6464T>G
NR_117100.1:n.1041+6464T>G
Search 100 bp 5'
Search 100 bp 3'