Canonical Allele Identifier: CA243295542
Gene: CASC18 HGNC NCBI
dbSNP:
10219670
gnomAD v2:
12:106108719 C / A
gnomAD v3:
12:105714941 C / A
gnomAD v4:
chr12-105714941-C-A
Joint Max Group AF 0.66977128 (AFR)
Genomes Max Group AF 0.66977128 (AFR)
MyVariant.info:
GRCh38 chr12:g.105714941C>A
GRCh37 chr12:g.106108719C>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105714941C>A , CM000674.2:g.105714941C>A GRCh38
NC_000012.11:g.106108719C>A , CM000674.1:g.106108719C>A GRCh37
NC_000012.10:g.104632849C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110108.1:n.54+10685C>A
NR_110109.1:n.55-221C>A
NR_110110.1:n.83+8085C>A
NR_110111.1:n.83+8085C>A
NR_110111.2:n.83+8085C>A
Search 100 bp 5'
Search 100 bp 3'