Canonical Allele Identifier: CA050984

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 629721
• ClinVar RCV Id: RCV000774431 ; RCV000811390 ; RCV001555973 ; RCV002386343
• dbSNP Id: rs376514478
• ExAC: 3:14183118 C / A
• gnomAD v2: 3-14183118-C-A
• gnomAD v3: 3-14141618-C-A
• gnomAD v4: 3-14141618-C-A
• MyVariant Identifiers: chr3:g.14183118C>A (hg19) ; chr3:g.14141618C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141618C>A , CM000665.2:g.14141618C>A	GRCh38
NC_000003.11:g.14183118C>A , CM000665.1:g.14183118C>A	GRCh37
NC_000003.10:g.14158119C>A	NCBI36
NG_008975.1:g.21679C>A , LRG_435:g.21679C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*1056C>A	ENSP00000395617.1:n.*1056C>A
ENST00000306077.5:c.1026C>A MANE Select	ENSP00000303992.5:p.Asp342Glu
ENST00000306077.4:c.1026C>A	ENSP00000303992.4:p.Asp342Glu
ENST00000601399.3:n.327+2321C>A
ENST00000608606.1:c.236+2321C>A
NM_024334.2:c.1026C>A , LRG_435t1:c.1026C>A	NP_077310.1:p.Asp342Glu
XM_011534109.1:c.921C>A	XP_011532411.1:p.Asp307Glu
XM_017007176.2:c.921C>A	XP_016862665.1:p.Asp307Glu
NM_024334.3:c.1026C>A MANE Select	NP_077310.1:p.Asp342Glu