Canonical Allele Identifier: CA405432832

Gene: SYNE4

Linked Data

• dbSNP Id: rs773136838
• gnomAD v2: 19-36497544-C-G
• gnomAD v4: 19-36006642-C-G
• MyVariant Identifiers: chr19:g.36497544C>G (hg19) ; chr19:g.36006642C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006642C>G , CM000681.2:g.36006642C>G	GRCh38
NC_000019.9:g.36497544C>G , CM000681.1:g.36497544C>G	GRCh37
NC_000019.8:g.41189384C>G	NCBI36
NG_042831.1:g.7152G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.648G>C MANE Select	ENSP00000316130.3:p.Gln216His
ENST00000397428.8:c.67-1205G>C
ENST00000465425.2:n.760G>C
ENST00000324444.7:c.648G>C	ENSP00000316130.3:p.Gln216His
ENST00000340477.9:c.309G>C	ENSP00000343152.5:p.Gln103His
ENST00000397428.7:c.40-1205G>C	ENSP00000380572.3:n.40-1205G>C
ENST00000465425.1:n.760G>C
ENST00000490730.1:c.648G>C	ENSP00000422716.1:p.Gln216His
ENST00000503121.5:c.242+1575G>C
ENST00000505054.2:n.395-1205G>C
NM_001039876.1:c.648G>C	NP_001034965.1:p.Gln216His
NM_001039876.2:c.648G>C	NP_001034965.1:p.Gln216His
NM_001297735.1:c.309G>C	NP_001284664.1:p.Gln103His
NM_001297735.2:c.309G>C	NP_001284664.1:p.Gln103His
XM_005258598.2:c.648G>C	XP_005258655.1:p.Gln216His
XM_005258601.2:c.618+108G>C	XP_005258658.1:n.618+108G>C
XM_005258604.3:c.648G>C	XP_005258661.1:p.Gln216His
NM_001039876.3:c.648G>C MANE Select	NP_001034965.1:p.Gln216His
NM_001297735.3:c.309G>C	NP_001284664.1:p.Gln103His