Canonical Allele Identifier: CA024803

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 46155
• ClinVar RCV Id: RCV000039395 ; RCV000457565 ; RCV000766918 ; RCV000776154 ; RCV002496628 ; RCV003372610
• dbSNP Id: rs199526104
• ExAC: 3:14180744 G / C
• gnomAD v2: 3-14180744-G-C
• gnomAD v3: 3-14139244-G-C
• gnomAD v4: 3-14139244-G-C
• MyVariant Identifiers: chr3:g.14180744G>C (hg19) ; chr3:g.14139244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139244G>C , CM000665.2:g.14139244G>C	GRCh38
NC_000003.11:g.14180744G>C , CM000665.1:g.14180744G>C	GRCh37
NC_000003.10:g.14155745G>C	NCBI36
NG_008975.1:g.19305G>C , LRG_435:g.19305G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*977G>C	ENSP00000395617.1:n.*977G>C
ENST00000306077.5:c.947G>C MANE Select	ENSP00000303992.5:p.Trp316Ser
ENST00000306077.4:c.947G>C	ENSP00000303992.4:p.Trp316Ser
ENST00000601399.3:n.274G>C
ENST00000608606.1:c.183G>C
NM_024334.2:c.947G>C , LRG_435t1:c.947G>C	NP_077310.1:p.Trp316Ser
XM_011534109.1:c.842G>C	XP_011532411.1:p.Trp281Ser
XM_017007176.2:c.842G>C	XP_016862665.1:p.Trp281Ser
NM_024334.3:c.947G>C MANE Select	NP_077310.1:p.Trp316Ser