Canonical Allele Identifier: CA2696795
Gene: TERC HGNC NCBI

Linked Data

ClinVar Variation Id: 465767
ClinVar RCV Id: RCV000538425
dbSNP Id: rs374793413
ExAC: 3:169482505 G / A
gnomAD v2: 3-169482505-G-A
gnomAD v3: 3-169764717-G-A
gnomAD v4: 3-169764717-G-A
MyVariant Identifiers: chr3:g.169482505G>A (hg19) chr3:g.169764717G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169764717G>A , CM000665.2:g.169764717G>A GRCh38
NC_000003.11:g.169482505G>A , CM000665.1:g.169482505G>A GRCh37
NC_000003.10:g.170965199G>A NCBI36
NG_016363.1:g.5344C>T , LRG_347:g.5344C>T

Transcript Alleles

HGVS Amino-acid Change
NR_001566.1:n.344C>T , LRG_347t1:n.344C>T
Search 100 bp 5'
Search 100 bp 3'