Canonical Allele Identifier: CA051745
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 1645126
ClinVar RCV Id: RCV002143696
dbSNP Id: rs766665492
ExAC: 3:14170908 T / C
gnomAD v2: 3-14170908-T-C
gnomAD v4: 3-14129408-T-C
MyVariant Identifiers: chr3:g.14170908T>C (hg19) chr3:g.14129408T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129408T>C , CM000665.2:g.14129408T>C GRCh38
NC_000003.11:g.14170908T>C , CM000665.1:g.14170908T>C GRCh37
NC_000003.10:g.14145909T>C NCBI36
NG_008975.1:g.9469T>C , LRG_435:g.9469T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*43-4T>C ENSP00000395617.1:n.*43-4T>C
ENST00000306077.5:c.13-4T>C MANE Select ENSP00000303992.5:n.13-4T>C
ENST00000306077.4:c.13-4T>C ENSP00000303992.4:n.13-4T>C
ENST00000432444.1:c.*43-4T>C ENSP00000395617.1:n.*43-4T>C
NM_024334.2:c.13-4T>C , LRG_435t1:c.13-4T>C NP_077310.1:n.13-4T>C
XM_011534109.1:c.-93-4T>C XP_011532411.1:n.-93-4T>C
XM_017007176.2:c.-93-4T>C XP_016862665.1:n.-93-4T>C
NM_024334.3:c.13-4T>C MANE Select NP_077310.1:n.13-4T>C
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