Canonical Allele Identifier: CA14753372
Gene: CST3 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.23632100C>T
GRCh37 chr20:g.23612737C>T
gnomAD v2:
20:23612737 C / T
gnomAD v3:
20:23632100 C / T
gnomAD v4:
chr20-23632100-C-T
Joint Max Group AF 0.85816862 (EAS)
Genomes Max Group AF 0.85816862 (EAS)
Exomes Max Group AF 0.62252443 (NFE)
dbSNP:
911119
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23632100C>T , CM000682.2:g.23632100C>T GRCh38
NC_000020.10:g.23612737C>T , CM000682.1:g.23612737C>T GRCh37
NC_000020.9:g.23560737C>T NCBI36
NG_012887.2:g.10838G>A
NG_012887.3:g.10838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000398411.5:c.*2+1814G>A ENSP00000381448.1:n.*2+1814G>A
NM_001288614.1:c.*2+1814G>A NP_001275543.1:n.*2+1814G>A
NM_001288614.2:c.*2+1814G>A NP_001275543.1:n.*2+1814G>A
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