Canonical Allele Identifier: CA585069699
Gene: CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1435284464
gnomAD v2: 8-128484976-A-G
gnomAD v3: 8-127472731-A-G
gnomAD v4: 8-127472731-A-G
MyVariant Identifiers: chr8:g.128484976A>G (hg19) chr8:g.127472731A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127472731A>G , CM000670.2:g.127472731A>G GRCh38
NC_000008.10:g.128484976A>G , CM000670.1:g.128484976A>G GRCh37
NC_000008.9:g.128554158A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_024393.1:n.1041+6352T>C
NR_117100.1:n.1041+6352T>C
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