Canonical Allele Identifier: CA114347
Gene: TMEM70 HGNC NCBI

Linked Data

ClinVar Variation Id: 540
ClinVar RCV Id: RCV000000570 RCV000390940 RCV003128385 RCV003389034 RCV003415606
dbSNP Id: rs183973249
ExAC: 8:74893388 A / G
gnomAD v2: 8-74893388-A-G
gnomAD v3: 8-73981153-A-G
gnomAD v4: 8-73981153-A-G
COSMIC: COSM3367401
MyVariant Identifiers: chr8:g.74893388A>G (hg19) chr8:g.73981153A>G (hg38)
PubMed: PMID:18953340 PMID:24485043
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.73981153A>G , CM000670.2:g.73981153A>G GRCh38
NC_000008.10:g.74893388A>G , CM000670.1:g.74893388A>G GRCh37
NC_000008.9:g.75055942A>G NCBI36
NG_016618.1:g.10012A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000312184.6:c.317-2A>G MANE Select ENSP00000312599.5:n.317-2A>G
ENST00000312184.5:c.317-2A>G ENSP00000312599.5:n.317-2A>G
ENST00000416961.6:c.*74-2A>G ENSP00000407695.2:n.*74-2A>G
ENST00000517439.1:c.*7-2A>G ENSP00000429467.1:n.*7-2A>G
ENST00000519551.1:n.208-2A>G
NM_001040613.2:c.*7-2A>G NP_001035703.1:n.*7-2A>G
NM_017866.5:c.317-2A>G NP_060336.3:n.317-2A>G
NR_033334.1:n.550-2A>G
NM_017866.6:c.317-2A>G MANE Select NP_060336.3:n.317-2A>G
NM_001040613.3:c.*7-2A>G NP_001035703.1:n.*7-2A>G
NR_033334.2:n.497-2A>G
Search 100 bp 5'
Search 100 bp 3'