Canonical Allele Identifier: CA337865851
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v3: 1-1535409-C-G
gnomAD v4: 1-1535409-C-G
MyVariant Identifiers: chr1:g.1470789C>G (hg19) chr1:g.1535409C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535409C>G , CM000663.2:g.1535409C>G GRCh38
NC_000001.10:g.1470789C>G , CM000663.1:g.1470789C>G GRCh37
NC_000001.9:g.1460652C>G NCBI36
NG_041807.1:g.9952G>C
NG_053035.1:g.28267C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.472G>C MANE Select ENSP00000368007.4:p.Val158Leu
ENST00000378733.8:c.472G>C ENSP00000368007.4:p.Val158Leu
ENST00000425828.1:c.472G>C ENSP00000400311.1:p.Val158Leu
NM_001114748.1:c.472G>C NP_001108220.1:p.Val158Leu
NM_001114748.2:c.472G>C MANE Select NP_001108220.1:p.Val158Leu
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