Canonical Allele Identifier: CA343764
Gene: TERC HGNC NCBI
ClinVar RCV:
RCV000032572
RCV002490442
ClinVar Variation:
39292
dbSNP:
199422260
gnomAD v2:
3:169482814 G / A
gnomAD v3:
3:169765026 G / A
gnomAD v4:
chr3-169765026-G-A
Joint Max Group AF 0.00000923 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000716 (NFE)
MyVariant.info:
GRCh38 chr3:g.169765026G>A
GRCh37 chr3:g.169482814G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169765026G>A , CM000665.2:g.169765026G>A GRCh38
NC_000003.11:g.169482814G>A , CM000665.1:g.169482814G>A GRCh37
NC_000003.10:g.170965508G>A NCBI36
NG_016363.1:g.5035C>T , LRG_347:g.5035C>T

Transcript Alleles

HGVS Amino-acid Change
NR_001566.1:n.35C>T , LRG_347t1:n.35C>T
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