Canonical Allele Identifier: CA16796529
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs971570680
gnomAD v4: 1-1535330-T-C
MyVariant Identifiers: chr1:g.1470710T>C (hg19) chr1:g.1535330T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535330T>C , CM000663.2:g.1535330T>C GRCh38
NC_000001.10:g.1470710T>C , CM000663.1:g.1470710T>C GRCh37
NC_000001.9:g.1460573T>C NCBI36
NG_041807.1:g.10031A>G
NG_053035.1:g.28188T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.*29A>G MANE Select ENSP00000368007.4:n.*29A>G
ENST00000378733.8:c.*29A>G ENSP00000368007.4:n.*29A>G
ENST00000425828.1:c.*29A>G ENSP00000400311.1:n.*29A>G
NM_001114748.1:c.*29A>G NP_001108220.1:n.*29A>G
NM_001114748.2:c.*29A>G MANE Select NP_001108220.1:n.*29A>G
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