Canonical Allele Identifier: CA371489114

Gene: TMEM70

Linked Data

• ClinVar Variation Id: 1408668
• ClinVar RCV Id: RCV001909558
• dbSNP Id: rs1215450178
• gnomAD v3: 8-73976305-C-A
• gnomAD v4: 8-73976305-C-A
• MyVariant Identifiers: chr8:g.74888540C>A (hg19) ; chr8:g.73976305C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976305C>A , CM000670.2:g.73976305C>A	GRCh38
NC_000008.10:g.74888540C>A , CM000670.1:g.74888540C>A	GRCh37
NC_000008.9:g.75051094C>A	NCBI36
NG_016618.1:g.5164C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000312184.6:c.24C>A MANE Select	ENSP00000312599.5:p.Ser8Arg
ENST00000312184.5:c.24C>A	ENSP00000312599.5:p.Ser8Arg
ENST00000416961.6:c.24C>A	ENSP00000407695.2:p.Ser8Arg
ENST00000517439.1:c.24C>A	ENSP00000429467.1:p.Ser8Arg
ENST00000517614.1:n.87C>A
ENST00000520167.5:n.317+344C>A
ENST00000523794.1:n.575C>A
NM_001040613.2:c.24C>A	NP_001035703.1:p.Ser8Arg
NM_017866.5:c.24C>A	NP_060336.3:p.Ser8Arg
NR_033334.1:n.164C>A
NM_017866.6:c.24C>A MANE Select	NP_060336.3:p.Ser8Arg
NM_001040613.3:c.24C>A	NP_001035703.1:p.Ser8Arg
NR_033334.2:n.111C>A