This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA9789704
Gene: CST8 HGNC NCBI
dbSNP:
201638851
gnomAD v2:
20:23476480 A / C
gnomAD v3:
20:23495843 A / C
gnomAD v4:
chr20-23495843-A-C
Joint Max Group AF 0.00010451 (AMR)
Exomes Max Group AF 0.00014013 (AMR)
MyVariant.info:
GRCh38 chr20:g.23495843A>C
GRCh37 chr20:g.23476480A>C
Revel Score:
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23495843A>C , CM000682.2:g.23495843A>C GRCh38
NC_000020.10:g.23476480A>C , CM000682.1:g.23476480A>C GRCh37
NC_000020.9:g.23424480A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000246012.2:c.358A>C MANE Select ENSP00000246012.1:p.Ser120Arg
ENST00000246012.1:c.358A>C ENSP00000246012.1:p.Ser120Arg
ENST00000449810.5:c.358A>C ENSP00000399144.1:p.Ser120Arg
NM_001281730.1:c.358A>C NP_001268659.1:p.Ser120Arg
NM_005492.3:c.358A>C NP_005483.1:p.Ser120Arg
XR_937015.1:n.768A>C
XR_937016.1:n.835A>C
XR_937017.1:n.768A>C
XR_937018.1:n.768A>C
XR_937019.1:n.609A>C
XR_001754109.1:n.767A>C
XR_937015.2:n.767A>C
XR_937016.2:n.834A>C
XR_937017.2:n.767A>C
XR_937018.2:n.767A>C
XR_937019.2:n.604A>C
NM_001281730.2:c.358A>C NP_001268659.1:p.Ser120Arg
NM_005492.4:c.358A>C MANE Select NP_005483.1:p.Ser120Arg
Search 100 bp 5'
Search 100 bp 3'