Canonical Allele Identifier: CA5374748

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 435040
• ClinVar RCV Id: RCV000503509 ; RCV000912037
• dbSNP Id: rs137852718
• ExAC: 9:140671136 C / A
• gnomAD v2: 9-140671136-C-A
• gnomAD v3: 9-137776684-C-A
• gnomAD v4: 9-137776684-C-A
• COSMIC: COSM4588682 ; COSM4588683
• MyVariant Identifiers: chr9:g.140671136C>A (hg19) ; chr9:g.137776684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776684C>A , CM000671.2:g.137776684C>A	GRCh38
NC_000009.11:g.140671136C>A , CM000671.1:g.140671136C>A	GRCh37
NC_000009.10:g.139790957C>A	NCBI36
NG_011776.1:g.162693C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1858C>A MANE Select	ENSP00000417980.1:p.Arg620=
ENST00000636027.1:c.1744C>A	ENSP00000489961.1:p.Arg582=
ENST00000637161.1:c.1765C>A	ENSP00000490328.1:p.Arg589=
ENST00000637261.1:c.1898C>A	ENSP00000490815.1:n.1898C>A
ENST00000638071.1:c.1485C>A
ENST00000640639.1:c.1027C>A	ENSP00000491823.1:p.Arg343=
ENST00000371394.6:c.*1593C>A	ENSP00000485945.1:n.*1593C>A
ENST00000460843.5:c.1858C>A	ENSP00000417980.1:p.Arg620=
ENST00000462484.5:c.1858C>A	ENSP00000417328.1:p.Arg620=
ENST00000462942.3:c.715C>A	ENSP00000436107.1:p.Arg239=
ENST00000465566.2:c.406C>A	ENSP00000486261.1:p.Arg136=
ENST00000626603.1:n.1765G>T
NM_001145527.1:c.1858C>A	NP_001138999.1:p.Arg620=
NM_024757.4:c.1858C>A	NP_079033.4:p.Arg620=
XM_005266105.3:c.1849C>A	XP_005266162.1:p.Arg617=
XM_005266110.1:c.1765C>A	XP_005266167.1:p.Arg589=
XM_006717288.2:c.1840C>A	XP_006717351.1:p.Arg614=
XM_011519021.1:c.1867C>A	XP_011517323.1:p.Arg623=
XM_011519022.1:c.1864C>A	XP_011517324.1:p.Arg622=
XM_011519023.1:c.1846C>A	XP_011517325.1:p.Arg616=
XM_011519024.1:c.1789C>A	XP_011517326.1:p.Arg597=
XM_011519025.1:c.1765C>A	XP_011517327.1:p.Arg589=
XM_011519026.1:c.1723C>A	XP_011517328.1:p.Arg575=
XM_011519027.1:c.1867C>A	XP_011517329.1:p.Arg623=
XM_011519028.1:c.1867C>A	XP_011517330.1:p.Arg623=
XM_011519029.1:c.289C>A	XP_011517331.1:p.Arg97=
XM_011519033.1:c.1702C>A	XP_011517335.1:p.Arg568=
NM_001354259.1:c.1765C>A	NP_001341188.1:p.Arg589=
NM_001354263.1:c.1837C>A	NP_001341192.1:p.Arg613=
XM_005266105.5:c.1849C>A	XP_005266162.1:p.Arg617=
XM_011519021.3:c.1867C>A	XP_011517323.1:p.Arg623=
XM_011519022.3:c.1864C>A	XP_011517324.1:p.Arg622=
XM_011519023.3:c.1846C>A	XP_011517325.1:p.Arg616=
XM_011519029.3:c.289C>A	XP_011517331.1:p.Arg97=
XM_017015134.1:c.1843C>A	XP_016870623.1:p.Arg615=
XM_017015136.2:c.1759C>A	XP_016870625.1:p.Arg587=
XM_017015137.1:c.1744C>A	XP_016870626.1:p.Arg582=
XM_017015138.1:c.1744C>A	XP_016870627.1:p.Arg582=
XM_024447674.1:c.1687C>A	XP_024303442.1:p.Arg563=
XM_024447675.1:c.1621C>A	XP_024303443.1:p.Arg541=
XM_024447676.1:c.982C>A	XP_024303444.1:p.Arg328=
XM_024447677.1:c.982C>A	XP_024303445.1:p.Arg328=
XM_024447678.1:c.1765C>A	XP_024303446.1:p.Arg589=
XM_024447679.1:c.1765C>A	XP_024303447.1:p.Arg589=
XM_024447680.1:c.1600C>A	XP_024303448.1:p.Arg534=
NM_024757.5:c.1858C>A MANE Select	NP_079033.4:p.Arg620=
NM_001145527.2:c.1858C>A	NP_001138999.1:p.Arg620=
NM_001354259.2:c.1765C>A	NP_001341188.1:p.Arg589=
NM_001354263.2:c.1837C>A	NP_001341192.1:p.Arg613=