Canonical Allele Identifier: CA4783956

Gene: TMEM70

Linked Data

• ClinVar Variation Id: 1616011
• ClinVar RCV Id: RCV002083993
• dbSNP Id: rs373992649
• ExAC: 8:74888640 A / G
• gnomAD v2: 8-74888640-A-G
• gnomAD v3: 8-73976405-A-G
• gnomAD v4: 8-73976405-A-G
• MyVariant Identifiers: chr8:g.74888640A>G (hg19) ; chr8:g.73976405A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976405A>G , CM000670.2:g.73976405A>G	GRCh38
NC_000008.10:g.74888640A>G , CM000670.1:g.74888640A>G	GRCh37
NC_000008.9:g.75051194A>G	NCBI36
NG_016618.1:g.5264A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000312184.6:c.124A>G MANE Select	ENSP00000312599.5:p.Ser42Gly
ENST00000312184.5:c.124A>G	ENSP00000312599.5:p.Ser42Gly
ENST00000416961.6:c.124A>G	ENSP00000407695.2:p.Ser42Gly
ENST00000517439.1:c.124A>G	ENSP00000429467.1:p.Ser42Gly
ENST00000517614.1:n.187A>G
ENST00000520167.5:n.317+444A>G
ENST00000523794.1:n.675A>G
NM_001040613.2:c.124A>G	NP_001035703.1:p.Ser42Gly
NM_017866.5:c.124A>G	NP_060336.3:p.Ser42Gly
NR_033334.1:n.264A>G
NM_017866.6:c.124A>G MANE Select	NP_060336.3:p.Ser42Gly
NM_001040613.3:c.124A>G	NP_001035703.1:p.Ser42Gly
NR_033334.2:n.211A>G