Canonical Allele Identifier: CA415768573
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 2695501
ClinVar RCV Id: RCV003542123
dbSNP Id: rs1242430728
gnomAD v2: 1-1470997-C-T
gnomAD v3: 1-1535617-C-T
gnomAD v4: 1-1535617-C-T
MyVariant Identifiers: chr1:g.1470997C>T (hg19) chr1:g.1535617C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535617C>T , CM000663.2:g.1535617C>T GRCh38
NC_000001.10:g.1470997C>T , CM000663.1:g.1470997C>T GRCh37
NC_000001.9:g.1460860C>T NCBI36
NG_041807.1:g.9744G>A
NG_053035.1:g.28475C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.345G>A MANE Select ENSP00000368007.4:p.Val115=
ENST00000378733.8:c.345G>A ENSP00000368007.4:p.Val115=
ENST00000425828.1:c.345G>A ENSP00000400311.1:p.Val115=
NM_001114748.1:c.345G>A NP_001108220.1:p.Val115=
NM_001114748.2:c.345G>A MANE Select NP_001108220.1:p.Val115=
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