Canonical Allele Identifier: CA2696827
Gene: TERC HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.169765024T>A
GRCh37 chr3:g.169482812T>A
gnomAD v2:
3:169482812 T / A
gnomAD v3:
3:169765024 T / A
gnomAD v4:
chr3-169765024-T-A
Joint Max Group AF 0.0000045 (NFE)
Exomes Max Group AF 0.00000518 (NFE)
ClinVar RCV:
RCV000817706
ClinVar Variation:
660503
dbSNP:
199422261
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169765024T>A , CM000665.2:g.169765024T>A GRCh38
NC_000003.11:g.169482812T>A , CM000665.1:g.169482812T>A GRCh37
NC_000003.10:g.170965506T>A NCBI36
NG_016363.1:g.5037A>T , LRG_347:g.5037A>T

Transcript Alleles

HGVS Amino-acid Change
NR_001566.1:n.37A>T , LRG_347t1:n.37A>T
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