Canonical Allele Identifier: CA436714752
Gene: TERC HGNC NCBI

Linked Data

ClinVar Variation Id: 936172
ClinVar RCV Id: RCV001204914
dbSNP Id: rs1230531511
gnomAD v2: 3-169482419-G-C
gnomAD v3: 3-169764631-G-C
gnomAD v4: 3-169764631-G-C
MyVariant Identifiers: chr3:g.169482419G>C (hg19) chr3:g.169764631G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169764631G>C , CM000665.2:g.169764631G>C GRCh38
NC_000003.11:g.169482419G>C , CM000665.1:g.169482419G>C GRCh37
NC_000003.10:g.170965113G>C NCBI36
NG_016363.1:g.5430C>G , LRG_347:g.5430C>G

Transcript Alleles

HGVS Amino-acid change
NR_001566.1:n.430C>G , LRG_347t1:n.430C>G
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