Canonical Allele Identifier: CA16796850
Gene: TMEM240 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.1535619C>T
GRCh37 chr1:g.1470999C>T
Revel Score:
ENST00000378733 (MANE Select) 0.202
ENST00000425828 0.202
gnomAD v2:
1:1470999 C / T
gnomAD v3:
1:1535619 C / T
gnomAD v4:
chr1-1535619-C-T
Joint Max Group AF 0.00112659 (EAS)
Genomes Max Group AF 0.00038007 (EAS)
Exomes Max Group AF 0.00116482 (EAS)
ClinVar RCV:
RCV000626226
RCV002529783
ClinVar Variation:
523023
dbSNP:
1045410944
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535619C>T , CM000663.2:g.1535619C>T GRCh38
NC_000001.10:g.1470999C>T , CM000663.1:g.1470999C>T GRCh37
NC_000001.9:g.1460862C>T NCBI36
NG_041807.1:g.9742G>A
NG_053035.1:g.28477C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.343G>A MANE Select ENSP00000368007.4:p.Val115Met
ENST00000378733.8:c.343G>A ENSP00000368007.4:p.Val115Met
ENST00000425828.1:c.343G>A ENSP00000400311.1:p.Val115Met
NM_001114748.1:c.343G>A NP_001108220.1:p.Val115Met
NM_001114748.2:c.343G>A MANE Select NP_001108220.1:p.Val115Met
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