Canonical Allele Identifier: CA9393794

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 504861
• ClinVar RCV Id: RCV000599744 ; RCV000993229
• dbSNP Id: rs369269989
• ExAC: 19:36496230 C / T
• gnomAD v2: 19-36496230-C-T
• gnomAD v3: 19-36005328-C-T
• gnomAD v4: 19-36005328-C-T
• MyVariant Identifiers: chr19:g.36496230C>T (hg19) ; chr19:g.36005328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36005328C>T , CM000681.2:g.36005328C>T	GRCh38
NC_000019.9:g.36496230C>T , CM000681.1:g.36496230C>T	GRCh37
NC_000019.8:g.41188070C>T	NCBI36
NG_042831.1:g.8466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.972+5G>A MANE Select	ENSP00000316130.3:n.972+5G>A
ENST00000397428.8:c.171+5G>A
ENST00000465425.2:n.2069+5G>A
ENST00000324444.7:c.972+5G>A	ENSP00000316130.3:n.972+5G>A
ENST00000340477.9:c.633+5G>A	ENSP00000343152.5:n.633+5G>A
ENST00000397428.7:c.144+5G>A	ENSP00000380572.3:n.144+5G>A
ENST00000465425.1:n.2069+5G>A
ENST00000490730.1:c.793+5G>A	ENSP00000422716.1:n.793+5G>A
ENST00000503121.5:c.243-1808G>A
ENST00000505054.2:n.499+5G>A
NM_001039876.1:c.972+5G>A	NP_001034965.1:n.972+5G>A
NM_001039876.2:c.972+5G>A	NP_001034965.1:n.972+5G>A
NM_001297735.1:c.633+5G>A	NP_001284664.1:n.633+5G>A
NM_001297735.2:c.633+5G>A	NP_001284664.1:n.633+5G>A
XM_005258598.2:c.793+5G>A	XP_005258655.1:n.793+5G>A
XM_005258601.2:c.723+5G>A	XP_005258658.1:n.723+5G>A
XM_005258604.3:c.793+5G>A	XP_005258661.1:n.793+5G>A
NM_001039876.3:c.972+5G>A MANE Select	NP_001034965.1:n.972+5G>A
NM_001297735.3:c.633+5G>A	NP_001284664.1:n.633+5G>A