Canonical Allele Identifier: CA050996

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 2196265
• ClinVar RCV Id: RCV002651036 ; RCV003162038
• dbSNP Id: rs369588299
• ExAC: 3:14183120 T / C
• gnomAD v2: 3-14183120-T-C
• gnomAD v4: 3-14141620-T-C
• MyVariant Identifiers: chr3:g.14183120T>C (hg19) ; chr3:g.14141620T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141620T>C , CM000665.2:g.14141620T>C	GRCh38
NC_000003.11:g.14183120T>C , CM000665.1:g.14183120T>C	GRCh37
NC_000003.10:g.14158121T>C	NCBI36
NG_008975.1:g.21681T>C , LRG_435:g.21681T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*1058T>C	ENSP00000395617.1:n.*1058T>C
ENST00000306077.5:c.1028T>C MANE Select	ENSP00000303992.5:p.Leu343Pro
ENST00000306077.4:c.1028T>C	ENSP00000303992.4:p.Leu343Pro
ENST00000601399.3:n.327+2323T>C
ENST00000608606.1:c.236+2323T>C
NM_024334.2:c.1028T>C , LRG_435t1:c.1028T>C	NP_077310.1:p.Leu343Pro
XM_011534109.1:c.923T>C	XP_011532411.1:p.Leu308Pro
XM_017007176.2:c.923T>C	XP_016862665.1:p.Leu308Pro
NM_024334.3:c.1028T>C MANE Select	NP_077310.1:p.Leu343Pro