Canonical Allele Identifier: CA9393908

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 227087
• ClinVar RCV Id: RCV000217921 ; RCV000969321
• dbSNP Id: rs143940810
• ExAC: 19:36497727 C / T
• gnomAD v2: 19-36497727-C-T
• gnomAD v3: 19-36006825-C-T
• gnomAD v4: 19-36006825-C-T
• MyVariant Identifiers: chr19:g.36497727C>T (hg19) ; chr19:g.36006825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006825C>T , CM000681.2:g.36006825C>T	GRCh38
NC_000019.9:g.36497727C>T , CM000681.1:g.36497727C>T	GRCh37
NC_000019.8:g.41189567C>T	NCBI36
NG_042831.1:g.6969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.543G>A MANE Select	ENSP00000316130.3:p.Arg181=
ENST00000397428.8:c.67-1388G>A
ENST00000465425.2:n.655G>A
ENST00000324444.7:c.543G>A	ENSP00000316130.3:p.Arg181=
ENST00000340477.9:c.280-154G>A	ENSP00000343152.5:n.280-154G>A
ENST00000397428.7:c.40-1388G>A	ENSP00000380572.3:n.40-1388G>A
ENST00000465425.1:n.655G>A
ENST00000490730.1:c.543G>A	ENSP00000422716.1:p.Arg181=
ENST00000503121.5:c.242+1392G>A
ENST00000505054.2:n.395-1388G>A
NM_001039876.1:c.543G>A	NP_001034965.1:p.Arg181=
NM_001039876.2:c.543G>A	NP_001034965.1:p.Arg181=
NM_001297735.1:c.280-154G>A	NP_001284664.1:n.280-154G>A
NM_001297735.2:c.280-154G>A	NP_001284664.1:n.280-154G>A
XM_005258598.2:c.543G>A	XP_005258655.1:p.Arg181=
XM_005258601.2:c.543G>A	XP_005258658.1:p.Arg181=
XM_005258604.3:c.543G>A	XP_005258661.1:p.Arg181=
NM_001039876.3:c.543G>A MANE Select	NP_001034965.1:p.Arg181=
NM_001297735.3:c.280-154G>A	NP_001284664.1:n.280-154G>A