Canonical Allele Identifier: CA526678
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 2078161
ClinVar RCV Id: RCV002988488
dbSNP Id: rs532021282
ExAC: 1:1471000 G / A
gnomAD v2: 1-1471000-G-A
gnomAD v3: 1-1535620-G-A
gnomAD v4: 1-1535620-G-A
MyVariant Identifiers: chr1:g.1471000G>A (hg19) chr1:g.1535620G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535620G>A , CM000663.2:g.1535620G>A GRCh38
NC_000001.10:g.1471000G>A , CM000663.1:g.1471000G>A GRCh37
NC_000001.9:g.1460863G>A NCBI36
NG_041807.1:g.9741C>T
NG_053035.1:g.28478G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.342C>T MANE Select ENSP00000368007.4:p.Ala114=
ENST00000378733.8:c.342C>T ENSP00000368007.4:p.Ala114=
ENST00000425828.1:c.342C>T ENSP00000400311.1:p.Ala114=
NM_001114748.1:c.342C>T NP_001108220.1:p.Ala114=
NM_001114748.2:c.342C>T MANE Select NP_001108220.1:p.Ala114=
Search 100 bp 5'
Search 100 bp 3'