Canonical Allele Identifier: CA9393901

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 2222627
• ClinVar RCV Id: RCV004088383
• dbSNP Id: rs545200726
• ExAC: 19:36497695 C / T
• gnomAD v2: 19-36497695-C-T
• gnomAD v3: 19-36006793-C-T
• gnomAD v4: 19-36006793-C-T
• MyVariant Identifiers: chr19:g.36497695C>T (hg19) ; chr19:g.36006793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006793C>T , CM000681.2:g.36006793C>T	GRCh38
NC_000019.9:g.36497695C>T , CM000681.1:g.36497695C>T	GRCh37
NC_000019.8:g.41189535C>T	NCBI36
NG_042831.1:g.7001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.575G>A MANE Select	ENSP00000316130.3:p.Arg192Gln
ENST00000397428.8:c.67-1356G>A
ENST00000465425.2:n.687G>A
ENST00000324444.7:c.575G>A	ENSP00000316130.3:p.Arg192Gln
ENST00000340477.9:c.280-122G>A	ENSP00000343152.5:n.280-122G>A
ENST00000397428.7:c.40-1356G>A	ENSP00000380572.3:n.40-1356G>A
ENST00000465425.1:n.687G>A
ENST00000490730.1:c.575G>A	ENSP00000422716.1:p.Arg192Gln
ENST00000503121.5:c.242+1424G>A
ENST00000505054.2:n.395-1356G>A
NM_001039876.1:c.575G>A	NP_001034965.1:p.Arg192Gln
NM_001039876.2:c.575G>A	NP_001034965.1:p.Arg192Gln
NM_001297735.1:c.280-122G>A	NP_001284664.1:n.280-122G>A
NM_001297735.2:c.280-122G>A	NP_001284664.1:n.280-122G>A
XM_005258598.2:c.575G>A	XP_005258655.1:p.Arg192Gln
XM_005258601.2:c.575G>A	XP_005258658.1:p.Arg192Gln
XM_005258604.3:c.575G>A	XP_005258661.1:p.Arg192Gln
NM_001039876.3:c.575G>A MANE Select	NP_001034965.1:p.Arg192Gln
NM_001297735.3:c.280-122G>A	NP_001284664.1:n.280-122G>A