Canonical Allele Identifier: CA16796494
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 1702646
ClinVar RCV Id: RCV002278964
dbSNP Id: rs574856684
gnomAD v2: 1-1470656-G-A
gnomAD v3: 1-1535276-G-A
gnomAD v4: 1-1535276-G-A
MyVariant Identifiers: chr1:g.1470656G>A (hg19) chr1:g.1535276G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535276G>A , CM000663.2:g.1535276G>A GRCh38
NC_000001.10:g.1470656G>A , CM000663.1:g.1470656G>A GRCh37
NC_000001.9:g.1460519G>A NCBI36
NG_041807.1:g.10085C>T
NG_053035.1:g.28134G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.*83C>T MANE Select ENSP00000368007.4:n.*83C>T
ENST00000378733.8:c.*83C>T ENSP00000368007.4:n.*83C>T
ENST00000425828.1:c.*83C>T ENSP00000400311.1:n.*83C>T
NM_001114748.1:c.*83C>T NP_001108220.1:n.*83C>T
NM_001114748.2:c.*83C>T MANE Select NP_001108220.1:n.*83C>T
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