Canonical Allele Identifier: CA2696810
Gene: TERC HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.169764864C>T
GRCh37 chr3:g.169482652C>T
gnomAD v4:
chr3-169764864-C-T
Joint Max Group AF 0.00000451 (SAS)
Exomes Max Group AF 0.00000483 (SAS)
ClinVar RCV:
RCV001037936
ClinVar Variation:
836742
dbSNP:
763663847
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169764864C>T , CM000665.2:g.169764864C>T GRCh38
NC_000003.11:g.169482652C>T , CM000665.1:g.169482652C>T GRCh37
NC_000003.10:g.170965346C>T NCBI36
NG_016363.1:g.5197G>A , LRG_347:g.5197G>A

Transcript Alleles

HGVS Amino-acid Change
NR_001566.1:n.197G>A , LRG_347t1:n.197G>A
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