Canonical Allele Identifier: CA052872

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 629431
• ClinVar RCV Id: RCV001324439 ; RCV000774137 ; RCV002325472 ; RCV003141760
• dbSNP Id: rs201085402
• ExAC: 3:14170930 C / T
• gnomAD v2: 3-14170930-C-T
• gnomAD v3: 3-14129430-C-T
• gnomAD v4: 3-14129430-C-T
• MyVariant Identifiers: chr3:g.14170930C>T (hg19) ; chr3:g.14129430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129430C>T , CM000665.2:g.14129430C>T	GRCh38
NC_000003.11:g.14170930C>T , CM000665.1:g.14170930C>T	GRCh37
NC_000003.10:g.14145931C>T	NCBI36
NG_008975.1:g.9491C>T , LRG_435:g.9491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*61C>T	ENSP00000395617.1:n.*61C>T
ENST00000306077.5:c.31C>T MANE Select	ENSP00000303992.5:p.Arg11Trp
ENST00000306077.4:c.31C>T	ENSP00000303992.4:p.Arg11Trp
ENST00000432444.1:c.*61C>T	ENSP00000395617.1:n.*61C>T
NM_024334.2:c.31C>T , LRG_435t1:c.31C>T	NP_077310.1:p.Arg11Trp
XM_011534109.1:c.-75C>T	XP_011532411.1:n.-75C>T
XM_017007176.2:c.-75C>T	XP_016862665.1:n.-75C>T
NM_024334.3:c.31C>T MANE Select	NP_077310.1:p.Arg11Trp