Canonical Allele Identifier: CA12852102
Gene: CASC8 HGNC NCBI
COSMIC:
COSN24848818 (not active)
MyVariant.info:
GRCh38 chr8:g.127428925C>T
GRCh37 chr8:g.128441170C>T
gnomAD v2:
8:128441170 C / T
gnomAD v3:
8:127428925 C / T
gnomAD v4:
chr8-127428925-C-T
Joint Max Group AF 0.66042356 (AFR)
Genomes Max Group AF 0.66042356 (AFR)
dbSNP:
7000448
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127428925C>T , CM000670.2:g.127428925C>T GRCh38
NC_000008.10:g.128441170C>T , CM000670.1:g.128441170C>T GRCh37
NC_000008.9:g.128510352C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_117100.1:n.1042-7962G>A
Search 100 bp 5'
Search 100 bp 3'