Canonical Allele Identifier: CA9393859

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 514699
• ClinVar RCV Id: RCV000729445 ; RCV003905635
• dbSNP Id: rs137899688
• ExAC: 19:36497436 C / T
• gnomAD v2: 19-36497436-C-T
• gnomAD v3: 19-36006534-C-T
• gnomAD v4: 19-36006534-C-T
• MyVariant Identifiers: chr19:g.36497436C>T (hg19) ; chr19:g.36006534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006534C>T , CM000681.2:g.36006534C>T	GRCh38
NC_000019.9:g.36497436C>T , CM000681.1:g.36497436C>T	GRCh37
NC_000019.8:g.41189276C>T	NCBI36
NG_042831.1:g.7260G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.756G>A MANE Select	ENSP00000316130.3:p.Ala252=
ENST00000397428.8:c.67-1097G>A
ENST00000465425.2:n.868G>A
ENST00000324444.7:c.756G>A	ENSP00000316130.3:p.Ala252=
ENST00000340477.9:c.417G>A	ENSP00000343152.5:p.Ala139=
ENST00000397428.7:c.40-1097G>A	ENSP00000380572.3:n.40-1097G>A
ENST00000465425.1:n.868G>A
ENST00000490730.1:c.688+68G>A	ENSP00000422716.1:n.688+68G>A
ENST00000503121.5:c.242+1683G>A
ENST00000505054.2:n.395-1097G>A
NM_001039876.1:c.756G>A	NP_001034965.1:p.Ala252=
NM_001039876.2:c.756G>A	NP_001034965.1:p.Ala252=
NM_001297735.1:c.417G>A	NP_001284664.1:p.Ala139=
NM_001297735.2:c.417G>A	NP_001284664.1:p.Ala139=
XM_005258598.2:c.688+68G>A	XP_005258655.1:n.688+68G>A
XM_005258601.2:c.618+216G>A	XP_005258658.1:n.618+216G>A
XM_005258604.3:c.688+68G>A	XP_005258661.1:n.688+68G>A
NM_001039876.3:c.756G>A MANE Select	NP_001034965.1:p.Ala252=
NM_001297735.3:c.417G>A	NP_001284664.1:p.Ala139=