Canonical Allele Identifier: CA405431501

Gene: SYNE4

Linked Data

• gnomAD v4: 19-36006453-C-G
• MyVariant Identifiers: chr19:g.36497355C>G (hg19) ; chr19:g.36006453C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006453C>G , CM000681.2:g.36006453C>G	GRCh38
NC_000019.9:g.36497355C>G , CM000681.1:g.36497355C>G	GRCh37
NC_000019.8:g.41189195C>G	NCBI36
NG_042831.1:g.7341G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.837G>C MANE Select	ENSP00000316130.3:p.Arg279Ser
ENST00000397428.8:c.67-1016G>C
ENST00000465425.2:n.949G>C
ENST00000324444.7:c.837G>C	ENSP00000316130.3:p.Arg279Ser
ENST00000340477.9:c.498G>C	ENSP00000343152.5:p.Arg166Ser
ENST00000397428.7:c.40-1016G>C	ENSP00000380572.3:n.40-1016G>C
ENST00000465425.1:n.949G>C
ENST00000490730.1:c.688+149G>C	ENSP00000422716.1:n.688+149G>C
ENST00000503121.5:c.242+1764G>C
ENST00000505054.2:n.395-1016G>C
NM_001039876.1:c.837G>C	NP_001034965.1:p.Arg279Ser
NM_001039876.2:c.837G>C	NP_001034965.1:p.Arg279Ser
NM_001297735.1:c.498G>C	NP_001284664.1:p.Arg166Ser
NM_001297735.2:c.498G>C	NP_001284664.1:p.Arg166Ser
XM_005258598.2:c.688+149G>C	XP_005258655.1:n.688+149G>C
XM_005258601.2:c.618+297G>C	XP_005258658.1:n.618+297G>C
XM_005258604.3:c.688+149G>C	XP_005258661.1:n.688+149G>C
NM_001039876.3:c.837G>C MANE Select	NP_001034965.1:p.Arg279Ser
NM_001297735.3:c.498G>C	NP_001284664.1:p.Arg166Ser