Canonical Allele Identifier: CA050808

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 534760
• ClinVar RCV Id: RCV000642422 ; RCV001183066 ; RCV003235322
• dbSNP Id: rs748618994
• ExAC: 3:14180799 T / C
• gnomAD v2: 3-14180799-T-C
• gnomAD v3: 3-14139299-T-C
• gnomAD v4: 3-14139299-T-C
• MyVariant Identifiers: chr3:g.14180799T>C (hg19) ; chr3:g.14139299T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139299T>C , CM000665.2:g.14139299T>C	GRCh38
NC_000003.11:g.14180799T>C , CM000665.1:g.14180799T>C	GRCh37
NC_000003.10:g.14155800T>C	NCBI36
NG_008975.1:g.19360T>C , LRG_435:g.19360T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1030+2T>C	ENSP00000395617.1:n.*1030+2T>C
ENST00000306077.5:c.1000+2T>C MANE Select	ENSP00000303992.5:n.1000+2T>C
ENST00000306077.4:c.1000+2T>C	ENSP00000303992.4:n.1000+2T>C
ENST00000601399.3:n.327+2T>C
ENST00000608606.1:c.236+2T>C
NM_024334.2:c.1000+2T>C , LRG_435t1:c.1000+2T>C	NP_077310.1:n.1000+2T>C
XM_011534109.1:c.895+2T>C	XP_011532411.1:n.895+2T>C
XM_017007176.2:c.895+2T>C	XP_016862665.1:n.895+2T>C
NM_024334.3:c.1000+2T>C MANE Select	NP_077310.1:n.1000+2T>C