Canonical Allele Identifier: CA9393724

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 227083
• ClinVar RCV Id: RCV000213515 ; RCV001596990 ; RCV003955251
• dbSNP Id: rs73928380
• ExAC: 19:36494234 A / G
• gnomAD v2: 19-36494234-A-G
• gnomAD v3: 19-36003332-A-G
• gnomAD v4: 19-36003332-A-G
• MyVariant Identifiers: chr19:g.36494234A>G (hg19) ; chr19:g.36003332A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36003332A>G , CM000681.2:g.36003332A>G	GRCh38
NC_000019.9:g.36494234A>G , CM000681.1:g.36494234A>G	GRCh37
NC_000019.8:g.41186074A>G	NCBI36
NG_042831.1:g.10462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.*5T>C MANE Select	ENSP00000316130.3:n.*5T>C
ENST00000397428.8:c.360T>C
ENST00000465425.2:n.2317T>C
ENST00000324444.7:c.*5T>C	ENSP00000316130.3:n.*5T>C
ENST00000340477.9:c.*5T>C	ENSP00000343152.5:n.*5T>C
ENST00000397428.7:c.333T>C	ENSP00000380572.3:p.Cys111=
ENST00000465425.1:n.2317T>C
ENST00000490730.1:c.1041T>C	ENSP00000422716.1:p.Cys347=
ENST00000503121.5:c.431T>C
ENST00000505054.2:n.688T>C
NM_001039876.1:c.*5T>C	NP_001034965.1:n.*5T>C
NM_001039876.2:c.*5T>C	NP_001034965.1:n.*5T>C
NM_001297735.1:c.*5T>C	NP_001284664.1:n.*5T>C
NM_001297735.2:c.*5T>C	NP_001284664.1:n.*5T>C
XM_005258598.2:c.1041T>C	XP_005258655.1:p.Cys347=
XM_005258601.2:c.912T>C	XP_005258658.1:p.Cys304=
NM_001039876.3:c.*5T>C MANE Select	NP_001034965.1:n.*5T>C
NM_001297735.3:c.*5T>C	NP_001284664.1:n.*5T>C