Canonical Allele Identifier: CA337865806
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v4: 1-1535397-G-C
MyVariant Identifiers: chr1:g.1470777G>C (hg19) chr1:g.1535397G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535397G>C , CM000663.2:g.1535397G>C GRCh38
NC_000001.10:g.1470777G>C , CM000663.1:g.1470777G>C GRCh37
NC_000001.9:g.1460640G>C NCBI36
NG_041807.1:g.9964C>G
NG_053035.1:g.28255G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.484C>G MANE Select ENSP00000368007.4:p.Leu162Val
ENST00000378733.8:c.484C>G ENSP00000368007.4:p.Leu162Val
ENST00000425828.1:c.484C>G ENSP00000400311.1:p.Leu162Val
NM_001114748.1:c.484C>G NP_001108220.1:p.Leu162Val
NM_001114748.2:c.484C>G MANE Select NP_001108220.1:p.Leu162Val
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