Canonical Allele Identifier: CA2696811

Gene: TERC

Linked Data

• ClinVar Variation Id: 465764
• ClinVar RCV Id: RCV000539838 ; RCV002257805
• dbSNP Id: rs753227339
• ExAC: 3:169482656 C / T
• gnomAD v2: 3-169482656-C-T
• gnomAD v3: 3-169764868-C-T
• gnomAD v4: 3-169764868-C-T
• MyVariant Identifiers: chr3:g.169482656C>T (hg19) ; chr3:g.169764868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169764868C>T , CM000665.2:g.169764868C>T	GRCh38
NC_000003.11:g.169482656C>T , CM000665.1:g.169482656C>T	GRCh37
NC_000003.10:g.170965350C>T	NCBI36
NG_016363.1:g.5193G>A , LRG_347:g.5193G>A

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.193G>A , LRG_347t1:n.193G>A