Canonical Allele Identifier: CA051095

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 235059
• ClinVar RCV Id: RCV000223930 ; RCV000243510 ; RCV000864384 ; RCV001191115 ; RCV001529413
• dbSNP Id: rs187262922
• ExAC: 3:14183153 G / C
• gnomAD v2: 3-14183153-G-C
• gnomAD v3: 3-14141653-G-C
• gnomAD v4: 3-14141653-G-C
• MyVariant Identifiers: chr3:g.14183153G>C (hg19) ; chr3:g.14141653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141653G>C , CM000665.2:g.14141653G>C	GRCh38
NC_000003.11:g.14183153G>C , CM000665.1:g.14183153G>C	GRCh37
NC_000003.10:g.14158154G>C	NCBI36
NG_008975.1:g.21714G>C , LRG_435:g.21714G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1091G>C	ENSP00000395617.1:n.*1091G>C
ENST00000306077.5:c.1061G>C MANE Select	ENSP00000303992.5:p.Cys354Ser
ENST00000306077.4:c.1061G>C	ENSP00000303992.4:p.Cys354Ser
ENST00000601399.3:n.327+2356G>C
ENST00000608606.1:c.236+2356G>C
NM_024334.2:c.1061G>C , LRG_435t1:c.1061G>C	NP_077310.1:p.Cys354Ser
XM_011534109.1:c.956G>C	XP_011532411.1:p.Cys319Ser
XM_017007176.2:c.956G>C	XP_016862665.1:p.Cys319Ser
NM_024334.3:c.1061G>C MANE Select	NP_077310.1:p.Cys354Ser