Canonical Allele Identifier: CA024692

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 179489
• ClinVar RCV Id: RCV000156279 ; RCV000247251 ; RCV000642410 ; RCV001186917 ; RCV001731402 ; RCV002484950
• dbSNP Id: rs544554435
• ExAC: 3:14174081 C / T
• gnomAD v2: 3-14174081-C-T
• gnomAD v3: 3-14132581-C-T
• gnomAD v4: 3-14132581-C-T
• COSMIC: COSM1039281
• MyVariant Identifiers: chr3:g.14174081C>T (hg19) ; chr3:g.14132581C>T (hg38)
• PubMed: PMID:21636032 ; PMID:23812740

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14132581C>T , CM000665.2:g.14132581C>T	GRCh38
NC_000003.11:g.14174081C>T , CM000665.1:g.14174081C>T	GRCh37
NC_000003.10:g.14149082C>T	NCBI36
NG_008975.1:g.12642C>T , LRG_435:g.12642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*458C>T	ENSP00000395617.1:n.*458C>T
ENST00000306077.5:c.428C>T MANE Select	ENSP00000303992.5:p.Thr143Met
ENST00000306077.4:c.428C>T	ENSP00000303992.4:p.Thr143Met
ENST00000432444.1:c.*458C>T	ENSP00000395617.1:n.*458C>T
NM_024334.2:c.428C>T , LRG_435t1:c.428C>T	NP_077310.1:p.Thr143Met
XM_011534109.1:c.323C>T	XP_011532411.1:p.Thr108Met
XM_017007176.2:c.323C>T	XP_016862665.1:p.Thr108Met
NM_024334.3:c.428C>T MANE Select	NP_077310.1:p.Thr143Met