Canonical Allele Identifier: CA9787424
Gene: SSTR4 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.23036445T>C
GRCh37 chr20:g.23017082T>C
Revel Score:
ENST00000255008 (MANE Select) 0.139
gnomAD v2:
20:23017082 T / C
gnomAD v3:
20:23036445 T / C
gnomAD v4:
chr20-23036445-T-C
Joint Max Group AF 0.57023729 (SAS)
Genomes Max Group AF 0.57325379 (SAS)
Exomes Max Group AF 0.56917744 (SAS)
dbSNP:
2567608
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23036445T>C , CM000682.2:g.23036445T>C GRCh38
NC_000020.10:g.23017082T>C , CM000682.1:g.23017082T>C GRCh37
NC_000020.9:g.22965082T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000255008.5:c.962T>C MANE Select ENSP00000255008.3:p.Phe321Ser
ENST00000255008.4:c.962T>C ENSP00000255008.3:p.Phe321Ser
NM_001052.2:c.962T>C NP_001043.2:p.Phe321Ser
XR_937364.1:n.801-1778T>C
XR_001754544.2:n.827-1778T>C
NM_001052.4:c.962T>C MANE Select NP_001043.2:p.Phe321Ser
Search 100 bp 5'
Search 100 bp 3'