Canonical Allele Identifier: CA2696789

Gene: TERC

Linked Data

• ClinVar Variation Id: 1018571
• ClinVar RCV Id: RCV001317898
• dbSNP Id: rs767519425
• ExAC: 3:169482452 C / G
• gnomAD v2: 3-169482452-C-G
• gnomAD v4: 3-169764664-C-G
• MyVariant Identifiers: chr3:g.169482452C>G (hg19) ; chr3:g.169764664C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169764664C>G , CM000665.2:g.169764664C>G	GRCh38
NC_000003.11:g.169482452C>G , CM000665.1:g.169482452C>G	GRCh37
NC_000003.10:g.170965146C>G	NCBI36
NG_016363.1:g.5397G>C , LRG_347:g.5397G>C

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.397G>C , LRG_347t1:n.397G>C