Canonical Allele Identifier: CA16796802
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 2780686
ClinVar RCV Id: RCV003659546
dbSNP Id: rs936719939
gnomAD v3: 1-1535593-G-C
gnomAD v4: 1-1535593-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535593G>C , CM000663.2:g.1535593G>C GRCh38
NC_000001.10:g.1470973G>C , CM000663.1:g.1470973G>C GRCh37
NC_000001.9:g.1460836G>C NCBI36
NG_041807.1:g.9768C>G
NG_053035.1:g.28451G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.369C>G MANE Select ENSP00000368007.4:p.Arg123=
ENST00000378733.8:c.369C>G ENSP00000368007.4:p.Arg123=
ENST00000425828.1:c.369C>G ENSP00000400311.1:p.Arg123=
NM_001114748.1:c.369C>G NP_001108220.1:p.Arg123=
NM_001114748.2:c.369C>G MANE Select NP_001108220.1:p.Arg123=