Canonical Allele Identifier: CA526696
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 749807
ClinVar RCV Id: RCV000926727
dbSNP Id: rs370284562
ExAC: 1:1471135 C / T
gnomAD v2: 1-1471135-C-T
gnomAD v3: 1-1535755-C-T
gnomAD v4: 1-1535755-C-T
MyVariant Identifiers: chr1:g.1471135C>T (hg19) chr1:g.1535755C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535755C>T , CM000663.2:g.1535755C>T GRCh38
NC_000001.10:g.1471135C>T , CM000663.1:g.1471135C>T GRCh37
NC_000001.9:g.1460998C>T NCBI36
NG_041807.1:g.9606G>A
NG_053035.1:g.28613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.207G>A MANE Select ENSP00000368007.4:p.Ser69=
ENST00000378733.8:c.207G>A ENSP00000368007.4:p.Ser69=
ENST00000425828.1:c.207G>A ENSP00000400311.1:p.Ser69=
NM_001114748.1:c.207G>A NP_001108220.1:p.Ser69=
NM_001114748.2:c.207G>A MANE Select NP_001108220.1:p.Ser69=
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