Canonical Allele Identifier: CA1139657620
Gene: TMEM237 HGNC NCBI

Linked Data

ClinVar Variation Id: 897787
ClinVar RCV Id: RCV001141265
dbSNP Id: rs1957729006
gnomAD v4: 2-201623474-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201623474C>T , CM000664.2:g.201623474C>T GRCh38
NC_000002.11:g.202488197C>T , CM000664.1:g.202488197C>T GRCh37
NC_000002.10:g.202196442C>T NCBI36
NG_032049.1:g.25056G>A
NG_051007.1:g.709G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000621467.5:c.*781G>A ENSP00000480508.2:n.*781G>A
ENST00000686475.1:n.1948G>A
ENST00000409883.7:c.*781G>A MANE Select ENSP00000386264.2:n.*781G>A
ENST00000409444.6:c.*781G>A ENSP00000387203.2:n.*781G>A
ENST00000409883.6:c.*781G>A ENSP00000386264.2:n.*781G>A
ENST00000495329.1:n.1147G>A
NM_001044385.2:c.*781G>A NP_001037850.1:n.*781G>A
NM_152388.3:c.*781G>A NP_689601.2:n.*781G>A
NM_001044385.3:c.*781G>A MANE Select NP_001037850.1:n.*781G>A
NM_152388.4:c.*781G>A NP_689601.2:n.*781G>A
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