Canonical Allele Identifier: CA2696819

Gene: TERC

Linked Data

• ClinVar Variation Id: 569852
• ClinVar RCV Id: RCV000690580
• dbSNP Id: rs781357040
• ExAC: 3:169482699 T / C
• gnomAD v2: 3-169482699-T-C
• gnomAD v3: 3-169764911-T-C
• gnomAD v4: 3-169764911-T-C
• MyVariant Identifiers: chr3:g.169482699T>C (hg19) ; chr3:g.169764911T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169764911T>C , CM000665.2:g.169764911T>C	GRCh38
NC_000003.11:g.169482699T>C , CM000665.1:g.169482699T>C	GRCh37
NC_000003.10:g.170965393T>C	NCBI36
NG_016363.1:g.5150A>G , LRG_347:g.5150A>G

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.150A>G , LRG_347t1:n.150A>G