Canonical Allele Identifier: CA881839879

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 2807383
• ClinVar RCV Id: RCV003682305
• dbSNP Id: rs1482258686
• gnomAD v3: 19-36006410-G-A
• gnomAD v4: 19-36006410-G-A
• MyVariant Identifiers: chr19:g.36497312G>A (hg19) ; chr19:g.36006410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006410G>A , CM000681.2:g.36006410G>A	GRCh38
NC_000019.9:g.36497312G>A , CM000681.1:g.36497312G>A	GRCh37
NC_000019.8:g.41189152G>A	NCBI36
NG_042831.1:g.7384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.867+13C>T MANE Select	ENSP00000316130.3:n.867+13C>T
ENST00000397428.8:c.67-973C>T
ENST00000465425.2:n.992C>T
ENST00000324444.7:c.867+13C>T	ENSP00000316130.3:n.867+13C>T
ENST00000340477.9:c.528+13C>T	ENSP00000343152.5:n.528+13C>T
ENST00000397428.7:c.40-973C>T	ENSP00000380572.3:n.40-973C>T
ENST00000465425.1:n.992C>T
ENST00000490730.1:c.688+192C>T	ENSP00000422716.1:n.688+192C>T
ENST00000503121.5:c.242+1807C>T
ENST00000505054.2:n.395-973C>T
NM_001039876.1:c.867+13C>T	NP_001034965.1:n.867+13C>T
NM_001039876.2:c.867+13C>T	NP_001034965.1:n.867+13C>T
NM_001297735.1:c.528+13C>T	NP_001284664.1:n.528+13C>T
NM_001297735.2:c.528+13C>T	NP_001284664.1:n.528+13C>T
XM_005258598.2:c.688+192C>T	XP_005258655.1:n.688+192C>T
XM_005258601.2:c.618+340C>T	XP_005258658.1:n.618+340C>T
XM_005258604.3:c.688+192C>T	XP_005258661.1:n.688+192C>T
NM_001039876.3:c.867+13C>T MANE Select	NP_001034965.1:n.867+13C>T
NM_001297735.3:c.528+13C>T	NP_001284664.1:n.528+13C>T