Canonical Allele Identifier: CA526676
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 1898999
ClinVar RCV Id: RCV002575243
dbSNP Id: rs780648238
ExAC: 1:1470994 G / A
gnomAD v2: 1-1470994-G-A
gnomAD v3: 1-1535614-G-A
gnomAD v4: 1-1535614-G-A
MyVariant Identifiers: chr1:g.1470994G>A (hg19) chr1:g.1535614G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535614G>A , CM000663.2:g.1535614G>A GRCh38
NC_000001.10:g.1470994G>A , CM000663.1:g.1470994G>A GRCh37
NC_000001.9:g.1460857G>A NCBI36
NG_041807.1:g.9747C>T
NG_053035.1:g.28472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.348C>T MANE Select ENSP00000368007.4:p.Arg116=
ENST00000378733.8:c.348C>T ENSP00000368007.4:p.Arg116=
ENST00000425828.1:c.348C>T ENSP00000400311.1:p.Arg116=
NM_001114748.1:c.348C>T NP_001108220.1:p.Arg116=
NM_001114748.2:c.348C>T MANE Select NP_001108220.1:p.Arg116=
Search 100 bp 5'
Search 100 bp 3'