Canonical Allele Identifier: CA9393796

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 504862
• ClinVar RCV Id: RCV000607873 ; RCV001288848
• dbSNP Id: rs150043310
• ExAC: 19:36496245 C / T
• gnomAD v2: 19-36496245-C-T
• gnomAD v3: 19-36005343-C-T
• gnomAD v4: 19-36005343-C-T
• MyVariant Identifiers: chr19:g.36496245C>T (hg19) ; chr19:g.36005343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36005343C>T , CM000681.2:g.36005343C>T	GRCh38
NC_000019.9:g.36496245C>T , CM000681.1:g.36496245C>T	GRCh37
NC_000019.8:g.41188085C>T	NCBI36
NG_042831.1:g.8451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.962G>A MANE Select	ENSP00000316130.3:p.Arg321Gln
ENST00000397428.8:c.161G>A
ENST00000465425.2:n.2059G>A
ENST00000324444.7:c.962G>A	ENSP00000316130.3:p.Arg321Gln
ENST00000340477.9:c.623G>A	ENSP00000343152.5:p.Arg208Gln
ENST00000397428.7:c.134G>A	ENSP00000380572.3:p.Arg45Gln
ENST00000465425.1:n.2059G>A
ENST00000490730.1:c.783G>A	ENSP00000422716.1:p.Pro261=
ENST00000503121.5:c.243-1823G>A
ENST00000505054.2:n.489G>A
NM_001039876.1:c.962G>A	NP_001034965.1:p.Arg321Gln
NM_001039876.2:c.962G>A	NP_001034965.1:p.Arg321Gln
NM_001297735.1:c.623G>A	NP_001284664.1:p.Arg208Gln
NM_001297735.2:c.623G>A	NP_001284664.1:p.Arg208Gln
XM_005258598.2:c.783G>A	XP_005258655.1:p.Pro261=
XM_005258601.2:c.713G>A	XP_005258658.1:p.Arg238Gln
XM_005258604.3:c.783G>A	XP_005258661.1:p.Pro261=
NM_001039876.3:c.962G>A MANE Select	NP_001034965.1:p.Arg321Gln
NM_001297735.3:c.623G>A	NP_001284664.1:p.Arg208Gln