Canonical Allele Identifier: CA526629
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 711681
ClinVar RCV Id: RCV000883482
dbSNP Id: rs375367099
ExAC: 1:1470769 G / A
gnomAD v2: 1-1470769-G-A
gnomAD v3: 1-1535389-G-A
gnomAD v4: 1-1535389-G-A
MyVariant Identifiers: chr1:g.1470769G>A (hg19) chr1:g.1535389G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535389G>A , CM000663.2:g.1535389G>A GRCh38
NC_000001.10:g.1470769G>A , CM000663.1:g.1470769G>A GRCh37
NC_000001.9:g.1460632G>A NCBI36
NG_041807.1:g.9972C>T
NG_053035.1:g.28247G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.492C>T MANE Select ENSP00000368007.4:p.His164=
ENST00000378733.8:c.492C>T ENSP00000368007.4:p.His164=
ENST00000425828.1:c.492C>T ENSP00000400311.1:p.His164=
NM_001114748.1:c.492C>T NP_001108220.1:p.His164=
NM_001114748.2:c.492C>T MANE Select NP_001108220.1:p.His164=
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