Canonical Allele Identifier: CA914322519

Gene: SYNE4

Linked Data

• gnomAD v2: 19-36497282-C-T
• gnomAD v4: 19-36006380-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006380C>T , CM000681.2:g.36006380C>T	GRCh38
NC_000019.9:g.36497282C>T , CM000681.1:g.36497282C>T	GRCh37
NC_000019.8:g.41189122C>T	NCBI36
NG_042831.1:g.7414G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.867+43G>A MANE Select	ENSP00000316130.3:n.867+43G>A
ENST00000397428.8:c.67-943G>A
ENST00000465425.2:n.1022G>A
ENST00000324444.7:c.867+43G>A	ENSP00000316130.3:n.867+43G>A
ENST00000340477.9:c.528+43G>A	ENSP00000343152.5:n.528+43G>A
ENST00000397428.7:c.40-943G>A	ENSP00000380572.3:n.40-943G>A
ENST00000465425.1:n.1022G>A
ENST00000490730.1:c.688+222G>A	ENSP00000422716.1:n.688+222G>A
ENST00000503121.5:c.242+1837G>A
ENST00000505054.2:n.395-943G>A
NM_001039876.1:c.867+43G>A	NP_001034965.1:n.867+43G>A
NM_001039876.2:c.867+43G>A	NP_001034965.1:n.867+43G>A
NM_001297735.1:c.528+43G>A	NP_001284664.1:n.528+43G>A
NM_001297735.2:c.528+43G>A	NP_001284664.1:n.528+43G>A
XM_005258598.2:c.688+222G>A	XP_005258655.1:n.688+222G>A
XM_005258601.2:c.618+370G>A	XP_005258658.1:n.618+370G>A
XM_005258604.3:c.688+222G>A	XP_005258661.1:n.688+222G>A
NM_001039876.3:c.867+43G>A MANE Select	NP_001034965.1:n.867+43G>A
NM_001297735.3:c.528+43G>A	NP_001284664.1:n.528+43G>A