Canonical Allele Identifier: CA118712

Gene: TERC

Linked Data

• ClinVar Variation Id: 7322
• ClinVar RCV Id: RCV000007746 ; RCV000032564
• dbSNP Id: rs199422277
• MyVariant Identifiers: chr3:g.169482645G>C (hg19) ; chr3:g.169764857G>C (hg38)
• PubMed: PMID:14630445 ; PMID:20301779 ; PMID:21436073

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169764857G>C , CM000665.2:g.169764857G>C	GRCh38
NC_000003.11:g.169482645G>C , CM000665.1:g.169482645G>C	GRCh37
NC_000003.10:g.170965339G>C	NCBI36
NG_016363.1:g.5204C>G , LRG_347:g.5204C>G

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.204C>G , LRG_347t1:n.204C>G