Canonical Allele Identifier: CA024760

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 36872
• ClinVar RCV Id: RCV000030554 ; RCV000642420 ; RCV003153307 ; RCV003352751 ; RCV002482923
• dbSNP Id: rs193922707
• ExAC: 3:14177323 G / A
• gnomAD v2: 3-14177323-G-A
• gnomAD v3: 3-14135823-G-A
• gnomAD v4: 3-14135823-G-A
• MyVariant Identifiers: chr3:g.14177323G>A (hg19) ; chr3:g.14135823G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14135823G>A , CM000665.2:g.14135823G>A	GRCh38
NC_000003.11:g.14177323G>A , CM000665.1:g.14177323G>A	GRCh37
NC_000003.10:g.14152324G>A	NCBI36
NG_008975.1:g.15884G>A , LRG_435:g.15884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*827G>A	ENSP00000395617.1:n.*827G>A
ENST00000306077.5:c.797G>A MANE Select	ENSP00000303992.5:p.Arg266Gln
ENST00000306077.4:c.797G>A	ENSP00000303992.4:p.Arg266Gln
ENST00000608606.1:c.33G>A
NM_024334.2:c.797G>A , LRG_435t1:c.797G>A	NP_077310.1:p.Arg266Gln
XM_011534109.1:c.692G>A	XP_011532411.1:p.Arg231Gln
XM_017007176.2:c.692G>A	XP_016862665.1:p.Arg231Gln
NM_024334.3:c.797G>A MANE Select	NP_077310.1:p.Arg266Gln