Canonical Allele Identifier: CA024745

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 46152
• ClinVar RCV Id: RCV000039391 ; RCV000587714 ; RCV001170683 ; RCV002504905 ; RCV001085012 ; RCV004017330
• dbSNP Id: rs201916031
• ExAC: 3:14176398 G / A
• gnomAD v2: 3-14176398-G-A
• gnomAD v3: 3-14134898-G-A
• gnomAD v4: 3-14134898-G-A
• MyVariant Identifiers: chr3:g.14176398G>A (hg19) ; chr3:g.14134898G>A (hg38)
• PubMed: PMID:21214875 ; PMID:23161701 ; PMID:23812740 ; PMID:25676813

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14134898G>A , CM000665.2:g.14134898G>A	GRCh38
NC_000003.11:g.14176398G>A , CM000665.1:g.14176398G>A	GRCh37
NC_000003.10:g.14151399G>A	NCBI36
NG_008975.1:g.14959G>A , LRG_435:g.14959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*735+7G>A	ENSP00000395617.1:n.*735+7G>A
ENST00000306077.5:c.705+7G>A MANE Select	ENSP00000303992.5:n.705+7G>A
ENST00000306077.4:c.705+7G>A	ENSP00000303992.4:n.705+7G>A
NM_024334.2:c.705+7G>A , LRG_435t1:c.705+7G>A	NP_077310.1:n.705+7G>A
XM_011534109.1:c.600+7G>A	XP_011532411.1:n.600+7G>A
XM_017007176.2:c.600+7G>A	XP_016862665.1:n.600+7G>A
NM_024334.3:c.705+7G>A MANE Select	NP_077310.1:n.705+7G>A