Canonical Allele Identifier: CA024641

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 40871
• ClinVar RCV Id: RCV000033855 ; RCV000553145 ; RCV000766912 ; RCV000183950 ; RCV000621435 ; RCV000777738
• dbSNP Id: rs144811578
• ExAC: 3:14172430 A / G
• gnomAD v2: 3-14172430-A-G
• gnomAD v3: 3-14130930-A-G
• gnomAD v4: 3-14130930-A-G
• MyVariant Identifiers: chr3:g.14172430A>G (hg19) ; chr3:g.14130930A>G (hg38)
• PubMed: PMID:21391237 ; PMID:21636032 ; PMID:24598986

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14130930A>G , CM000665.2:g.14130930A>G	GRCh38
NC_000003.11:g.14172430A>G , CM000665.1:g.14172430A>G	GRCh37
NC_000003.10:g.14147431A>G	NCBI36
NG_008975.1:g.10991A>G , LRG_435:g.10991A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*301A>G	ENSP00000395617.1:n.*301A>G
ENST00000306077.5:c.271A>G MANE Select	ENSP00000303992.5:p.Ile91Val
ENST00000306077.4:c.271A>G	ENSP00000303992.4:p.Ile91Val
ENST00000432444.1:c.*301A>G	ENSP00000395617.1:n.*301A>G
NM_024334.2:c.271A>G , LRG_435t1:c.271A>G	NP_077310.1:p.Ile91Val
XM_011534109.1:c.166A>G	XP_011532411.1:p.Ile56Val
XM_017007176.2:c.166A>G	XP_016862665.1:p.Ile56Val
NM_024334.3:c.271A>G MANE Select	NP_077310.1:p.Ile91Val