Canonical Allele Identifier: CA185745381
Gene: CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs552140162
gnomAD v2: 8-128485017-C-A
gnomAD v3: 8-127472772-C-A
gnomAD v4: 8-127472772-C-A
MyVariant Identifiers: chr8:g.128485017C>A (hg19) chr8:g.127472772C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127472772C>A , CM000670.2:g.127472772C>A GRCh38
NC_000008.10:g.128485017C>A , CM000670.1:g.128485017C>A GRCh37
NC_000008.9:g.128554199C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_024393.1:n.1041+6311G>T
NR_117100.1:n.1041+6311G>T
Search 100 bp 5'
Search 100 bp 3'