Canonical Allele Identifier: CA024748

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 202119
• ClinVar RCV Id: RCV000183939 ; RCV000618132 ; RCV000766915 ; RCV000769156 ; RCV002485232 ; RCV000642423
• dbSNP Id: rs367910936
• ExAC: 3:14176670 C / T
• gnomAD v2: 3-14176670-C-T
• gnomAD v3: 3-14135170-C-T
• gnomAD v4: 3-14135170-C-T
• MyVariant Identifiers: chr3:g.14176670C>T (hg19) ; chr3:g.14135170C>T (hg38)
• PubMed: PMID:21636032 ; PMID:23178689 ; PMID:23465283

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14135170C>T , CM000665.2:g.14135170C>T	GRCh38
NC_000003.11:g.14176670C>T , CM000665.1:g.14176670C>T	GRCh37
NC_000003.10:g.14151671C>T	NCBI36
NG_008975.1:g.15231C>T , LRG_435:g.15231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*748C>T	ENSP00000395617.1:n.*748C>T
ENST00000306077.5:c.718C>T MANE Select	ENSP00000303992.5:p.Arg240Cys
ENST00000306077.4:c.718C>T	ENSP00000303992.4:p.Arg240Cys
NM_024334.2:c.718C>T , LRG_435t1:c.718C>T	NP_077310.1:p.Arg240Cys
XM_011534109.1:c.613C>T	XP_011532411.1:p.Arg205Cys
XM_017007176.2:c.613C>T	XP_016862665.1:p.Arg205Cys
NM_024334.3:c.718C>T MANE Select	NP_077310.1:p.Arg240Cys