Canonical Allele Identifier: CA9393845

Gene: SYNE4

Linked Data

• dbSNP Id: rs779711070
• ExAC: 19:36497375 A / G
• gnomAD v2: 19-36497375-A-G
• gnomAD v4: 19-36006473-A-G
• MyVariant Identifiers: chr19:g.36497375A>G (hg19) ; chr19:g.36006473A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006473A>G , CM000681.2:g.36006473A>G	GRCh38
NC_000019.9:g.36497375A>G , CM000681.1:g.36497375A>G	GRCh37
NC_000019.8:g.41189215A>G	NCBI36
NG_042831.1:g.7321T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.817T>C MANE Select	ENSP00000316130.3:p.Cys273Arg
ENST00000397428.8:c.67-1036T>C
ENST00000465425.2:n.929T>C
ENST00000324444.7:c.817T>C	ENSP00000316130.3:p.Cys273Arg
ENST00000340477.9:c.478T>C	ENSP00000343152.5:p.Cys160Arg
ENST00000397428.7:c.40-1036T>C	ENSP00000380572.3:n.40-1036T>C
ENST00000465425.1:n.929T>C
ENST00000490730.1:c.688+129T>C	ENSP00000422716.1:n.688+129T>C
ENST00000503121.5:c.242+1744T>C
ENST00000505054.2:n.395-1036T>C
NM_001039876.1:c.817T>C	NP_001034965.1:p.Cys273Arg
NM_001039876.2:c.817T>C	NP_001034965.1:p.Cys273Arg
NM_001297735.1:c.478T>C	NP_001284664.1:p.Cys160Arg
NM_001297735.2:c.478T>C	NP_001284664.1:p.Cys160Arg
XM_005258598.2:c.688+129T>C	XP_005258655.1:n.688+129T>C
XM_005258601.2:c.618+277T>C	XP_005258658.1:n.618+277T>C
XM_005258604.3:c.688+129T>C	XP_005258661.1:n.688+129T>C
NM_001039876.3:c.817T>C MANE Select	NP_001034965.1:p.Cys273Arg
NM_001297735.3:c.478T>C	NP_001284664.1:p.Cys160Arg