Canonical Allele Identifier: CA2696804

Gene: TERC

Linked Data

• ClinVar Variation Id: 850791
• ClinVar RCV Id: RCV001055040
• dbSNP Id: rs537355285
• ExAC: 3:169482608 T / C
• gnomAD v2: 3-169482608-T-C
• gnomAD v3: 3-169764820-T-C
• gnomAD v4: 3-169764820-T-C
• MyVariant Identifiers: chr3:g.169482608T>C (hg19) ; chr3:g.169764820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169764820T>C , CM000665.2:g.169764820T>C	GRCh38
NC_000003.11:g.169482608T>C , CM000665.1:g.169482608T>C	GRCh37
NC_000003.10:g.170965302T>C	NCBI36
NG_016363.1:g.5241A>G , LRG_347:g.5241A>G

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.241A>G , LRG_347t1:n.241A>G