Canonical Allele Identifier: CA024757

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 180544
• ClinVar RCV Id: RCV000157523 ; RCV000467886 ; RCV000523010 ; RCV002408708 ; RCV002492613
• dbSNP Id: rs139842014
• ExAC: 3:14177322 C / T
• gnomAD v2: 3-14177322-C-T
• gnomAD v3: 3-14135822-C-T
• gnomAD v4: 3-14135822-C-T
• MyVariant Identifiers: chr3:g.14177322C>T (hg19) ; chr3:g.14135822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14135822C>T , CM000665.2:g.14135822C>T	GRCh38
NC_000003.11:g.14177322C>T , CM000665.1:g.14177322C>T	GRCh37
NC_000003.10:g.14152323C>T	NCBI36
NG_008975.1:g.15883C>T , LRG_435:g.15883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*826C>T	ENSP00000395617.1:n.*826C>T
ENST00000306077.5:c.796C>T MANE Select	ENSP00000303992.5:p.Arg266Trp
ENST00000306077.4:c.796C>T	ENSP00000303992.4:p.Arg266Trp
ENST00000608606.1:c.32C>T
NM_024334.2:c.796C>T , LRG_435t1:c.796C>T	NP_077310.1:p.Arg266Trp
XM_011534109.1:c.691C>T	XP_011532411.1:p.Arg231Trp
XM_017007176.2:c.691C>T	XP_016862665.1:p.Arg231Trp
NM_024334.3:c.796C>T MANE Select	NP_077310.1:p.Arg266Trp