Canonical Allele Identifier: CA343765

Gene: TERC

Linked Data

• ClinVar Variation Id: 39293
• ClinVar RCV Id: RCV002482938 ; RCV002509180
• dbSNP Id: rs199422261
• ExAC: 3:169482812 T / C
• gnomAD v2: 3-169482812-T-C
• gnomAD v3: 3-169765024-T-C
• gnomAD v4: 3-169765024-T-C
• MyVariant Identifiers: chr3:g.169482812T>C (hg19) ; chr3:g.169765024T>C (hg38)
• PubMed: PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169765024T>C , CM000665.2:g.169765024T>C	GRCh38
NC_000003.11:g.169482812T>C , CM000665.1:g.169482812T>C	GRCh37
NC_000003.10:g.170965506T>C	NCBI36
NG_016363.1:g.5037A>G , LRG_347:g.5037A>G

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.37A>G , LRG_347t1:n.37A>G