Canonical Allele Identifier: CA337866075
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 3068934
ClinVar RCV Id: RCV003994994
dbSNP Id: rs1481467751
gnomAD v3: 1-1535466-C-G
gnomAD v4: 1-1535466-C-G
MyVariant Identifiers: chr1:g.1470846C>G (hg19) chr1:g.1535466C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535466C>G , CM000663.2:g.1535466C>G GRCh38
NC_000001.10:g.1470846C>G , CM000663.1:g.1470846C>G GRCh37
NC_000001.9:g.1460709C>G NCBI36
NG_041807.1:g.9895G>C
NG_053035.1:g.28324C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.415G>C MANE Select ENSP00000368007.4:p.Glu139Gln
ENST00000378733.8:c.415G>C ENSP00000368007.4:p.Glu139Gln
ENST00000425828.1:c.415G>C ENSP00000400311.1:p.Glu139Gln
NM_001114748.1:c.415G>C NP_001108220.1:p.Glu139Gln
NM_001114748.2:c.415G>C MANE Select NP_001108220.1:p.Glu139Gln
Search 100 bp 5'
Search 100 bp 3'