Canonical Allele Identifier: CA307816046

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 2977267
• ClinVar RCV Id: RCV003831385
• dbSNP Id: rs749062538
• gnomAD v2: 19-36497681-G-A
• gnomAD v3: 19-36006779-G-A
• gnomAD v4: 19-36006779-G-A
• MyVariant Identifiers: chr19:g.36497681G>A (hg19) ; chr19:g.36006779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006779G>A , CM000681.2:g.36006779G>A	GRCh38
NC_000019.9:g.36497681G>A , CM000681.1:g.36497681G>A	GRCh37
NC_000019.8:g.41189521G>A	NCBI36
NG_042831.1:g.7015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.589C>T MANE Select	ENSP00000316130.3:p.Leu197=
ENST00000397428.8:c.67-1342C>T
ENST00000465425.2:n.701C>T
ENST00000324444.7:c.589C>T	ENSP00000316130.3:p.Leu197=
ENST00000340477.9:c.280-108C>T	ENSP00000343152.5:n.280-108C>T
ENST00000397428.7:c.40-1342C>T	ENSP00000380572.3:n.40-1342C>T
ENST00000465425.1:n.701C>T
ENST00000490730.1:c.589C>T	ENSP00000422716.1:p.Leu197=
ENST00000503121.5:c.242+1438C>T
ENST00000505054.2:n.395-1342C>T
NM_001039876.1:c.589C>T	NP_001034965.1:p.Leu197=
NM_001039876.2:c.589C>T	NP_001034965.1:p.Leu197=
NM_001297735.1:c.280-108C>T	NP_001284664.1:n.280-108C>T
NM_001297735.2:c.280-108C>T	NP_001284664.1:n.280-108C>T
XM_005258598.2:c.589C>T	XP_005258655.1:p.Leu197=
XM_005258601.2:c.589C>T	XP_005258658.1:p.Leu197=
XM_005258604.3:c.589C>T	XP_005258661.1:p.Leu197=
NM_001039876.3:c.589C>T MANE Select	NP_001034965.1:p.Leu197=
NM_001297735.3:c.280-108C>T	NP_001284664.1:n.280-108C>T