Canonical Allele Identifier: CA4783919

Gene: TMEM70

Linked Data

• ClinVar Variation Id: 363687
• ClinVar RCV Id: RCV000305838 ; RCV001675880
• dbSNP Id: rs2306486
• ExAC: 8:74888494 C / T
• gnomAD v2: 8-74888494-C-T
• gnomAD v3: 8-73976259-C-T
• gnomAD v4: 8-73976259-C-T
• MyVariant Identifiers: chr8:g.74888494C>T (hg19) ; chr8:g.73976259C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976259C>T , CM000670.2:g.73976259C>T	GRCh38
NC_000008.10:g.74888494C>T , CM000670.1:g.74888494C>T	GRCh37
NC_000008.9:g.75051048C>T	NCBI36
NG_016618.1:g.5118C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312184.6:c.-23C>T MANE Select	ENSP00000312599.5:n.-23C>T
ENST00000312184.5:c.-23C>T	ENSP00000312599.5:n.-23C>T
ENST00000416961.6:c.-23C>T	ENSP00000407695.2:n.-23C>T
ENST00000517439.1:c.-23C>T	ENSP00000429467.1:n.-23C>T
ENST00000517614.1:n.41C>T
ENST00000520167.5:n.317+298C>T
ENST00000523794.1:n.575-46C>T
NM_001040613.2:c.-23C>T	NP_001035703.1:n.-23C>T
NM_017866.5:c.-23C>T	NP_060336.3:n.-23C>T
NR_033334.1:n.118C>T
NM_017866.6:c.-23C>T MANE Select	NP_060336.3:n.-23C>T
NM_001040613.3:c.-23C>T	NP_001035703.1:n.-23C>T
NR_033334.2:n.65C>T