Canonical Allele Identifier: CA526677
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 2367852
ClinVar RCV Id: RCV002984861 RCV003778529
dbSNP Id: rs749750055
ExAC: 1:1470995 C / T
gnomAD v2: 1-1470995-C-T
gnomAD v3: 1-1535615-C-T
gnomAD v4: 1-1535615-C-T
MyVariant Identifiers: chr1:g.1470995C>T (hg19) chr1:g.1535615C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535615C>T , CM000663.2:g.1535615C>T GRCh38
NC_000001.10:g.1470995C>T , CM000663.1:g.1470995C>T GRCh37
NC_000001.9:g.1460858C>T NCBI36
NG_041807.1:g.9746G>A
NG_053035.1:g.28473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.347G>A MANE Select ENSP00000368007.4:p.Arg116His
ENST00000378733.8:c.347G>A ENSP00000368007.4:p.Arg116His
ENST00000425828.1:c.347G>A ENSP00000400311.1:p.Arg116His
NM_001114748.1:c.347G>A NP_001108220.1:p.Arg116His
NM_001114748.2:c.347G>A MANE Select NP_001108220.1:p.Arg116His
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