Canonical Allele Identifier: CA9393854

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 517272
• ClinVar RCV Id: RCV000614518 ; RCV000955554
• dbSNP Id: rs557057979
• ExAC: 19:36497403 T / C
• gnomAD v2: 19-36497403-T-C
• gnomAD v3: 19-36006501-T-C
• gnomAD v4: 19-36006501-T-C
• MyVariant Identifiers: chr19:g.36497403T>C (hg19) ; chr19:g.36006501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006501T>C , CM000681.2:g.36006501T>C	GRCh38
NC_000019.9:g.36497403T>C , CM000681.1:g.36497403T>C	GRCh37
NC_000019.8:g.41189243T>C	NCBI36
NG_042831.1:g.7293A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324444.9:c.789A>G MANE Select	ENSP00000316130.3:p.Gln263=
ENST00000397428.8:c.67-1064A>G
ENST00000465425.2:n.901A>G
ENST00000324444.7:c.789A>G	ENSP00000316130.3:p.Gln263=
ENST00000340477.9:c.450A>G	ENSP00000343152.5:p.Gln150=
ENST00000397428.7:c.40-1064A>G	ENSP00000380572.3:n.40-1064A>G
ENST00000465425.1:n.901A>G
ENST00000490730.1:c.688+101A>G	ENSP00000422716.1:n.688+101A>G
ENST00000503121.5:c.242+1716A>G
ENST00000505054.2:n.395-1064A>G
NM_001039876.1:c.789A>G	NP_001034965.1:p.Gln263=
NM_001039876.2:c.789A>G	NP_001034965.1:p.Gln263=
NM_001297735.1:c.450A>G	NP_001284664.1:p.Gln150=
NM_001297735.2:c.450A>G	NP_001284664.1:p.Gln150=
XM_005258598.2:c.688+101A>G	XP_005258655.1:n.688+101A>G
XM_005258601.2:c.618+249A>G	XP_005258658.1:n.618+249A>G
XM_005258604.3:c.688+101A>G	XP_005258661.1:n.688+101A>G
NM_001039876.3:c.789A>G MANE Select	NP_001034965.1:p.Gln263=
NM_001297735.3:c.450A>G	NP_001284664.1:p.Gln150=