Canonical Allele Identifier: CA371489511

Gene: TMEM70

Linked Data

• ClinVar Variation Id: 2917119
• ClinVar RCV Id: RCV003642335
• gnomAD v4: 8-73978769-G-A
• MyVariant Identifiers: chr8:g.74891004G>A (hg19) ; chr8:g.73978769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73978769G>A , CM000670.2:g.73978769G>A	GRCh38
NC_000008.10:g.74891004G>A , CM000670.1:g.74891004G>A	GRCh37
NC_000008.9:g.75053558G>A	NCBI36
NG_016618.1:g.7628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312184.6:c.224G>A MANE Select	ENSP00000312599.5:p.Trp75Ter
ENST00000312184.5:c.224G>A	ENSP00000312599.5:p.Trp75Ter
ENST00000416961.6:c.224G>A	ENSP00000407695.2:p.Trp75Ter
ENST00000517439.1:c.224G>A	ENSP00000429467.1:p.Trp75Ter
ENST00000517614.1:n.287G>A
ENST00000519551.1:n.22G>A
ENST00000520167.5:n.331G>A
NM_001040613.2:c.224G>A	NP_001035703.1:p.Trp75Ter
NM_017866.5:c.224G>A	NP_060336.3:p.Trp75Ter
NR_033334.1:n.364G>A
NM_017866.6:c.224G>A MANE Select	NP_060336.3:p.Trp75Ter
NM_001040613.3:c.224G>A	NP_001035703.1:p.Trp75Ter
NR_033334.2:n.311G>A