Canonical Allele Identifier: CA9393737

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 504860
• ClinVar RCV Id: RCV000613344 ; RCV000842352
• dbSNP Id: rs200818193
• ExAC: 19:36494297 C / T
• gnomAD v2: 19-36494297-C-T
• gnomAD v3: 19-36003395-C-T
• gnomAD v4: 19-36003395-C-T
• MyVariant Identifiers: chr19:g.36494297C>T (hg19) ; chr19:g.36003395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36003395C>T , CM000681.2:g.36003395C>T	GRCh38
NC_000019.9:g.36494297C>T , CM000681.1:g.36494297C>T	GRCh37
NC_000019.8:g.41186137C>T	NCBI36
NG_042831.1:g.10399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.1157G>A MANE Select	ENSP00000316130.3:p.Arg386Gln
ENST00000397428.8:c.297G>A
ENST00000465425.2:n.2254G>A
ENST00000324444.7:c.1157G>A	ENSP00000316130.3:p.Arg386Gln
ENST00000340477.9:c.818G>A	ENSP00000343152.5:p.Arg273Gln
ENST00000397428.7:c.270G>A	ENSP00000380572.3:p.Pro90=
ENST00000465425.1:n.2254G>A
ENST00000490730.1:c.978G>A	ENSP00000422716.1:p.Pro326=
ENST00000503121.5:c.368G>A
ENST00000505054.2:n.625G>A
NM_001039876.1:c.1157G>A	NP_001034965.1:p.Arg386Gln
NM_001039876.2:c.1157G>A	NP_001034965.1:p.Arg386Gln
NM_001297735.1:c.818G>A	NP_001284664.1:p.Arg273Gln
NM_001297735.2:c.818G>A	NP_001284664.1:p.Arg273Gln
XM_005258598.2:c.978G>A	XP_005258655.1:p.Pro326=
XM_005258601.2:c.849G>A	XP_005258658.1:p.Pro283=
NM_001039876.3:c.1157G>A MANE Select	NP_001034965.1:p.Arg386Gln
NM_001297735.3:c.818G>A	NP_001284664.1:p.Arg273Gln