Canonical Allele Identifier: CA520626262
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1255988892
gnomAD v2: 1-1470694-A-G
gnomAD v3: 1-1535314-A-G
gnomAD v4: 1-1535314-A-G
MyVariant Identifiers: chr1:g.1470694A>G (hg19) chr1:g.1535314A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535314A>G , CM000663.2:g.1535314A>G GRCh38
NC_000001.10:g.1470694A>G , CM000663.1:g.1470694A>G GRCh37
NC_000001.9:g.1460557A>G NCBI36
NG_041807.1:g.10047T>C
NG_053035.1:g.28172A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.*45T>C MANE Select ENSP00000368007.4:n.*45T>C
ENST00000378733.8:c.*45T>C ENSP00000368007.4:n.*45T>C
ENST00000425828.1:c.*45T>C ENSP00000400311.1:n.*45T>C
NM_001114748.1:c.*45T>C NP_001108220.1:n.*45T>C
NM_001114748.2:c.*45T>C MANE Select NP_001108220.1:n.*45T>C
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