Canonical Allele Identifier: CA436715463
Gene: TERC HGNC NCBI

Linked Data

ClinVar Variation Id: 960014
ClinVar RCV Id: RCV001233462
dbSNP Id: rs1383015695
gnomAD v2: 3-169482657-G-A
gnomAD v4: 3-169764869-G-A
MyVariant Identifiers: chr3:g.169482657G>A (hg19) chr3:g.169764869G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169764869G>A , CM000665.2:g.169764869G>A GRCh38
NC_000003.11:g.169482657G>A , CM000665.1:g.169482657G>A GRCh37
NC_000003.10:g.170965351G>A NCBI36
NG_016363.1:g.5192C>T , LRG_347:g.5192C>T

Transcript Alleles

HGVS Amino-acid Change
NR_001566.1:n.192C>T , LRG_347t1:n.192C>T
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