Canonical Allele Identifier: CA272847
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 161194
ClinVar RCV Id: RCV000148346
dbSNP Id: rs606231453
gnomAD v2: 1-1470996-G-A
gnomAD v3: 1-1535616-G-A
gnomAD v4: 1-1535616-G-A
MyVariant Identifiers: chr1:g.1470996G>A (hg19) chr1:g.1535616G>A (hg38)
PubMed: PMID:25070513
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535616G>A , CM000663.2:g.1535616G>A GRCh38
NC_000001.10:g.1470996G>A , CM000663.1:g.1470996G>A GRCh37
NC_000001.9:g.1460859G>A NCBI36
NG_041807.1:g.9745C>T
NG_053035.1:g.28474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.346C>T MANE Select ENSP00000368007.4:p.Arg116Cys
ENST00000378733.8:c.346C>T ENSP00000368007.4:p.Arg116Cys
ENST00000425828.1:c.346C>T ENSP00000400311.1:p.Arg116Cys
NM_001114748.1:c.346C>T NP_001108220.1:p.Arg116Cys
NM_001114748.2:c.346C>T MANE Select NP_001108220.1:p.Arg116Cys
Search 100 bp 5'
Search 100 bp 3'