Canonical Allele Identifier: CA16796850
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 523023
ClinVar RCV Id: RCV000626226 RCV002529783
dbSNP Id: rs1045410944
gnomAD v2: 1-1470999-C-T
gnomAD v3: 1-1535619-C-T
gnomAD v4: 1-1535619-C-T
MyVariant Identifiers: chr1:g.1470999C>T (hg19) chr1:g.1535619C>T (hg38)
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
Search 100 bp 5'
Search 100 bp 3'