Canonical Allele Identifier: CA343758
Gene: TERC HGNC NCBI

Linked Data

ClinVar Variation Id: 39286
ClinVar RCV Id: RCV002496490
dbSNP Id: rs141686314
ExAC: 3:169482621 C / T
gnomAD v2: 3-169482621-C-T
gnomAD v3: 3-169764833-C-T
gnomAD v4: 3-169764833-C-T
MyVariant Identifiers: chr3:g.169482621C>T (hg19) chr3:g.169764833C>T (hg38)
PubMed: PMID:20301779
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169764833C>T , CM000665.2:g.169764833C>T GRCh38
NC_000003.11:g.169482621C>T , CM000665.1:g.169482621C>T GRCh37
NC_000003.10:g.170965315C>T NCBI36
NG_016363.1:g.5228G>A , LRG_347:g.5228G>A

Transcript Alleles

HGVS Amino-acid change
NR_001566.1:n.228G>A , LRG_347t1:n.228G>A
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