Canonical Allele Identifier: CA9393894

Gene: SYNE4

Linked Data

• dbSNP Id: rs774500481
• ExAC: 19:36497645 G / A
• gnomAD v2: 19-36497645-G-A
• MyVariant Identifiers: chr19:g.36497645G>A (hg19) ; chr19:g.36006743G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006743G>A , CM000681.2:g.36006743G>A	GRCh38
NC_000019.9:g.36497645G>A , CM000681.1:g.36497645G>A	GRCh37
NC_000019.8:g.41189485G>A	NCBI36
NG_042831.1:g.7051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.618+7C>T MANE Select	ENSP00000316130.3:n.618+7C>T
ENST00000397428.8:c.67-1306C>T
ENST00000465425.2:n.730+7C>T
ENST00000324444.7:c.618+7C>T	ENSP00000316130.3:n.618+7C>T
ENST00000340477.9:c.280-72C>T	ENSP00000343152.5:n.280-72C>T
ENST00000397428.7:c.40-1306C>T	ENSP00000380572.3:n.40-1306C>T
ENST00000465425.1:n.730+7C>T
ENST00000490730.1:c.618+7C>T	ENSP00000422716.1:n.618+7C>T
ENST00000503121.5:c.242+1474C>T
ENST00000505054.2:n.395-1306C>T
NM_001039876.1:c.618+7C>T	NP_001034965.1:n.618+7C>T
NM_001039876.2:c.618+7C>T	NP_001034965.1:n.618+7C>T
NM_001297735.1:c.280-72C>T	NP_001284664.1:n.280-72C>T
NM_001297735.2:c.280-72C>T	NP_001284664.1:n.280-72C>T
XM_005258598.2:c.618+7C>T	XP_005258655.1:n.618+7C>T
XM_005258601.2:c.618+7C>T	XP_005258658.1:n.618+7C>T
XM_005258604.3:c.618+7C>T	XP_005258661.1:n.618+7C>T
NM_001039876.3:c.618+7C>T MANE Select	NP_001034965.1:n.618+7C>T
NM_001297735.3:c.280-72C>T	NP_001284664.1:n.280-72C>T