Canonical Allele Identifier: CA526672
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 1988577
ClinVar RCV Id: RCV002781372
dbSNP Id: rs577269741
ExAC: 1:1470978 G / A
gnomAD v2: 1-1470978-G-A
gnomAD v3: 1-1535598-G-A
gnomAD v4: 1-1535598-G-A
MyVariant Identifiers: chr1:g.1470978G>A (hg19) chr1:g.1535598G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535598G>A , CM000663.2:g.1535598G>A GRCh38
NC_000001.10:g.1470978G>A , CM000663.1:g.1470978G>A GRCh37
NC_000001.9:g.1460841G>A NCBI36
NG_041807.1:g.9763C>T
NG_053035.1:g.28456G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.364C>T MANE Select ENSP00000368007.4:p.Arg122Trp
ENST00000378733.8:c.364C>T ENSP00000368007.4:p.Arg122Trp
ENST00000425828.1:c.364C>T ENSP00000400311.1:p.Arg122Trp
NM_001114748.1:c.364C>T NP_001108220.1:p.Arg122Trp
NM_001114748.2:c.364C>T MANE Select NP_001108220.1:p.Arg122Trp
Search 100 bp 5'
Search 100 bp 3'