Canonical Allele Identifier: CA9393841

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 2899915
• ClinVar RCV Id: RCV003739879
• dbSNP Id: rs757248672
• ExAC: 19:36497360 G / A
• gnomAD v2: 19-36497360-G-A
• gnomAD v3: 19-36006458-G-A
• gnomAD v4: 19-36006458-G-A
• MyVariant Identifiers: chr19:g.36497360G>A (hg19) ; chr19:g.36006458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006458G>A , CM000681.2:g.36006458G>A	GRCh38
NC_000019.9:g.36497360G>A , CM000681.1:g.36497360G>A	GRCh37
NC_000019.8:g.41189200G>A	NCBI36
NG_042831.1:g.7336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.832C>T MANE Select	ENSP00000316130.3:p.Gln278Ter
ENST00000397428.8:c.67-1021C>T
ENST00000465425.2:n.944C>T
ENST00000324444.7:c.832C>T	ENSP00000316130.3:p.Gln278Ter
ENST00000340477.9:c.493C>T	ENSP00000343152.5:p.Gln165Ter
ENST00000397428.7:c.40-1021C>T	ENSP00000380572.3:n.40-1021C>T
ENST00000465425.1:n.944C>T
ENST00000490730.1:c.688+144C>T	ENSP00000422716.1:n.688+144C>T
ENST00000503121.5:c.242+1759C>T
ENST00000505054.2:n.395-1021C>T
NM_001039876.1:c.832C>T	NP_001034965.1:p.Gln278Ter
NM_001039876.2:c.832C>T	NP_001034965.1:p.Gln278Ter
NM_001297735.1:c.493C>T	NP_001284664.1:p.Gln165Ter
NM_001297735.2:c.493C>T	NP_001284664.1:p.Gln165Ter
XM_005258598.2:c.688+144C>T	XP_005258655.1:n.688+144C>T
XM_005258601.2:c.618+292C>T	XP_005258658.1:n.618+292C>T
XM_005258604.3:c.688+144C>T	XP_005258661.1:n.688+144C>T
NM_001039876.3:c.832C>T MANE Select	NP_001034965.1:p.Gln278Ter
NM_001297735.3:c.493C>T	NP_001284664.1:p.Gln165Ter