Canonical Allele Identifier: CA436715399
Gene: TERC HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.169764850G>A
GRCh37 chr3:g.169482638G>A
gnomAD v2:
3:169482638 G / A
gnomAD v4:
chr3-169764850-G-A
Joint Max Group AF 0.0000059 (AMR)
Exomes Max Group AF 0.0000081 (AMR)
ClinVar RCV:
RCV002038678
ClinVar Variation:
1523182
dbSNP:
1346505603
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169764850G>A , CM000665.2:g.169764850G>A GRCh38
NC_000003.11:g.169482638G>A , CM000665.1:g.169482638G>A GRCh37
NC_000003.10:g.170965332G>A NCBI36
NG_016363.1:g.5211C>T , LRG_347:g.5211C>T

Transcript Alleles

HGVS Amino-acid Change
NR_001566.1:n.211C>T , LRG_347t1:n.211C>T
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