Canonical Allele Identifier: CA9393852
Gene: SYNE4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2728186
ClinVar RCV Id: RCV003559416
dbSNP Id: rs200616477

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36006490C>T , CM000681.2:g.36006490C>T GRCh38
NC_000019.9:g.36497392C>T , CM000681.1:g.36497392C>T GRCh37
NC_000019.8:g.41189232C>T NCBI36
NG_042831.1:g.7304G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324444.9:c.800G>A MANE Select ENSP00000316130.3:p.Arg267Gln
ENST00000397428.8:c.67-1053G>A
ENST00000465425.2:n.912G>A
ENST00000324444.7:c.800G>A ENSP00000316130.3:p.Arg267Gln
ENST00000340477.9:c.461G>A ENSP00000343152.5:p.Arg154Gln
ENST00000397428.7:c.40-1053G>A ENSP00000380572.3:n.40-1053G>A
ENST00000465425.1:n.912G>A
ENST00000490730.1:c.688+112G>A ENSP00000422716.1:n.688+112G>A
ENST00000503121.5:c.242+1727G>A
ENST00000505054.2:n.395-1053G>A
NM_001039876.1:c.800G>A NP_001034965.1:p.Arg267Gln
NM_001039876.2:c.800G>A NP_001034965.1:p.Arg267Gln
NM_001297735.1:c.461G>A NP_001284664.1:p.Arg154Gln
NM_001297735.2:c.461G>A NP_001284664.1:p.Arg154Gln
XM_005258598.2:c.688+112G>A XP_005258655.1:n.688+112G>A
XM_005258601.2:c.618+260G>A XP_005258658.1:n.618+260G>A
XM_005258604.3:c.688+112G>A XP_005258661.1:n.688+112G>A
NM_001039876.3:c.800G>A MANE Select NP_001034965.1:p.Arg267Gln
NM_001297735.3:c.461G>A NP_001284664.1:p.Arg154Gln