Canonical Allele Identifier: CA1031266
Gene: TENT5C HGNC NCBI
ClinVar RCV:
RCV004471959
ClinVar Variation:
3176083
COSMIC:
COSM423577
dbSNP:
775789017
gnomAD v2:
1:118166421 C / T
gnomAD v3:
1:117623799 C / T
gnomAD v4:
chr1-117623799-C-T
Joint Max Group AF 0.00002255 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.0000081 (NFE)
MyVariant.info:
GRCh38 chr1:g.117623799C>T
GRCh37 chr1:g.118166421C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.117623799C>T , CM000663.2:g.117623799C>T GRCh38
NC_000001.10:g.118166421C>T , CM000663.1:g.118166421C>T GRCh37
NC_000001.9:g.117967944C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369448.4:c.931C>T MANE Select ENSP00000358458.3:p.Arg311Cys
ENST00000369448.3:c.931C>T ENSP00000358458.3:p.Arg311Cys
NM_017709.3:c.931C>T NP_060179.2:p.Arg311Cys
NM_017709.4:c.931C>T MANE Select NP_060179.2:p.Arg311Cys
Search 100 bp 5'
Search 100 bp 3'