Canonical Allele Identifier: CA129563
Gene: TMEM70 HGNC NCBI

Linked Data

ClinVar Variation Id: 30958
ClinVar RCV Id: RCV000023948 RCV001539609 RCV002513212
dbSNP Id: rs387907070
gnomAD v2: 8-74891018-C-T
gnomAD v3: 8-73978783-C-T
gnomAD v4: 8-73978783-C-T
MyVariant Identifiers: chr8:g.74891018C>T (hg19) chr8:g.73978783C>T (hg38)
PubMed: PMID:21147908
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.73978783C>T , CM000670.2:g.73978783C>T GRCh38
NC_000008.10:g.74891018C>T , CM000670.1:g.74891018C>T GRCh37
NC_000008.9:g.75053572C>T NCBI36
NG_016618.1:g.7642C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000312184.6:c.238C>T MANE Select ENSP00000312599.5:p.Arg80Ter
ENST00000312184.5:c.238C>T ENSP00000312599.5:p.Arg80Ter
ENST00000416961.6:c.238C>T ENSP00000407695.2:p.Arg80Ter
ENST00000517439.1:c.238C>T ENSP00000429467.1:p.Arg80Ter
ENST00000517614.1:n.301C>T
ENST00000519551.1:n.36C>T
ENST00000520167.5:n.345C>T
NM_001040613.2:c.238C>T NP_001035703.1:p.Arg80Ter
NM_017866.5:c.238C>T NP_060336.3:p.Arg80Ter
NR_033334.1:n.378C>T
NM_017866.6:c.238C>T MANE Select NP_060336.3:p.Arg80Ter
NM_001040613.3:c.238C>T NP_001035703.1:p.Arg80Ter
NR_033334.2:n.325C>T
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