Canonical Allele Identifier: CA16796629
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1024546715
gnomAD v2: 1-1470830-G-C
gnomAD v4: 1-1535450-G-C
MyVariant Identifiers: chr1:g.1470830G>C (hg19) chr1:g.1535450G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535450G>C , CM000663.2:g.1535450G>C GRCh38
NC_000001.10:g.1470830G>C , CM000663.1:g.1470830G>C GRCh37
NC_000001.9:g.1460693G>C NCBI36
NG_041807.1:g.9911C>G
NG_053035.1:g.28308G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.431C>G MANE Select ENSP00000368007.4:p.Pro144Arg
ENST00000378733.8:c.431C>G ENSP00000368007.4:p.Pro144Arg
ENST00000425828.1:c.431C>G ENSP00000400311.1:p.Pro144Arg
NM_001114748.1:c.431C>G NP_001108220.1:p.Pro144Arg
NM_001114748.2:c.431C>G MANE Select NP_001108220.1:p.Pro144Arg
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