Canonical Allele Identifier: CA337867348
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 2628427
ClinVar RCV Id: RCV003397279
dbSNP Id: rs2100695631
MyVariant Identifiers: chr1:g.1471175T>C (hg19) chr1:g.1535795T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535795T>C , CM000663.2:g.1535795T>C GRCh38
NC_000001.10:g.1471175T>C , CM000663.1:g.1471175T>C GRCh37
NC_000001.9:g.1461038T>C NCBI36
NG_041807.1:g.9566A>G
NG_053035.1:g.28653T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.167A>G MANE Select ENSP00000368007.4:p.His56Arg
ENST00000378733.8:c.167A>G ENSP00000368007.4:p.His56Arg
ENST00000425828.1:c.167A>G ENSP00000400311.1:p.His56Arg
NM_001114748.1:c.167A>G NP_001108220.1:p.His56Arg
NM_001114748.2:c.167A>G MANE Select NP_001108220.1:p.His56Arg
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