Canonical Allele Identifier: CA9790079
Gene: CST9 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.23605631C>G
GRCh37 chr20:g.23586268C>G
Revel Score:
ENST00000376971 (MANE Select) 0.020
gnomAD v2:
20:23586268 C / G
gnomAD v3:
20:23605631 C / G
gnomAD v4:
chr20-23605631-C-G
Joint Max Group AF 0.00022078 (AMR)
Genomes Max Group AF 0.00005278 (AMR)
Exomes Max Group AF 0.00024153 (AMR)
ClinVar RCV:
RCV004245570
ClinVar Variation:
2410581
dbSNP:
367813029
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23605631C>G , CM000682.2:g.23605631C>G GRCh38
NC_000020.10:g.23586268C>G , CM000682.1:g.23586268C>G GRCh37
NC_000020.9:g.23534268C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376971.4:c.234G>C MANE Select ENSP00000366170.4:p.Arg78Ser
ENST00000376971.3:c.234G>C ENSP00000366170.3:p.Arg78Ser
NM_001008693.2:c.234G>C NP_001008693.2:p.Arg78Ser
XM_005260665.3:c.234G>C XP_005260722.1:p.Arg78Ser
NM_001008693.3:c.234G>C MANE Select NP_001008693.2:p.Arg78Ser
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