Canonical Allele Identifier: CA585069702
Gene: CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1279255173
gnomAD v2: 8-128485019-A-G
gnomAD v3: 8-127472774-A-G
gnomAD v4: 8-127472774-A-G
MyVariant Identifiers: chr8:g.128485019A>G (hg19) chr8:g.127472774A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127472774A>G , CM000670.2:g.127472774A>G GRCh38
NC_000008.10:g.128485019A>G , CM000670.1:g.128485019A>G GRCh37
NC_000008.9:g.128554201A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_024393.1:n.1041+6309T>C
NR_117100.1:n.1041+6309T>C
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