Canonical Allele Identifier: CA307815669

Gene: SYNE4

Linked Data

• dbSNP Id: rs534293996
• gnomAD v2: 19-36497396-C-T
• gnomAD v3: 19-36006494-C-T
• gnomAD v4: 19-36006494-C-T
• MyVariant Identifiers: chr19:g.36497396C>T (hg19) ; chr19:g.36006494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006494C>T , CM000681.2:g.36006494C>T	GRCh38
NC_000019.9:g.36497396C>T , CM000681.1:g.36497396C>T	GRCh37
NC_000019.8:g.41189236C>T	NCBI36
NG_042831.1:g.7300G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324444.9:c.796G>A MANE Select	ENSP00000316130.3:p.Ala266Thr
ENST00000397428.8:c.67-1057G>A
ENST00000465425.2:n.908G>A
ENST00000324444.7:c.796G>A	ENSP00000316130.3:p.Ala266Thr
ENST00000340477.9:c.457G>A	ENSP00000343152.5:p.Ala153Thr
ENST00000397428.7:c.40-1057G>A	ENSP00000380572.3:n.40-1057G>A
ENST00000465425.1:n.908G>A
ENST00000490730.1:c.688+108G>A	ENSP00000422716.1:n.688+108G>A
ENST00000503121.5:c.242+1723G>A
ENST00000505054.2:n.395-1057G>A
NM_001039876.1:c.796G>A	NP_001034965.1:p.Ala266Thr
NM_001039876.2:c.796G>A	NP_001034965.1:p.Ala266Thr
NM_001297735.1:c.457G>A	NP_001284664.1:p.Ala153Thr
NM_001297735.2:c.457G>A	NP_001284664.1:p.Ala153Thr
XM_005258598.2:c.688+108G>A	XP_005258655.1:n.688+108G>A
XM_005258601.2:c.618+256G>A	XP_005258658.1:n.618+256G>A
XM_005258604.3:c.688+108G>A	XP_005258661.1:n.688+108G>A
NM_001039876.3:c.796G>A MANE Select	NP_001034965.1:p.Ala266Thr
NM_001297735.3:c.457G>A	NP_001284664.1:p.Ala153Thr