Canonical Allele Identifier: CA5374746

Gene: EHMT1

Linked Data

• dbSNP Id: rs748381657
• ExAC: 9:140671113 G / A
• gnomAD v2: 9-140671113-G-A
• gnomAD v4: 9-137776661-G-A
• MyVariant Identifiers: chr9:g.140671113G>A (hg19) ; chr9:g.137776661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776661G>A , CM000671.2:g.137776661G>A	GRCh38
NC_000009.11:g.140671113G>A , CM000671.1:g.140671113G>A	GRCh37
NC_000009.10:g.139790934G>A	NCBI36
NG_011776.1:g.162670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1835G>A MANE Select	ENSP00000417980.1:p.Arg612His
ENST00000636027.1:c.1721G>A	ENSP00000489961.1:p.Arg574His
ENST00000637161.1:c.1742G>A	ENSP00000490328.1:p.Arg581His
ENST00000637261.1:c.1875G>A	ENSP00000490815.1:n.1875G>A
ENST00000638071.1:c.1462G>A
ENST00000640639.1:c.1004G>A	ENSP00000491823.1:p.Arg335His
ENST00000371394.6:c.*1570G>A	ENSP00000485945.1:n.*1570G>A
ENST00000460843.5:c.1835G>A	ENSP00000417980.1:p.Arg612His
ENST00000462484.5:c.1835G>A	ENSP00000417328.1:p.Arg612His
ENST00000462942.3:c.692G>A	ENSP00000436107.1:p.Arg231His
ENST00000465566.2:c.383G>A	ENSP00000486261.1:p.Arg128His
ENST00000626603.1:n.1788C>T
NM_001145527.1:c.1835G>A	NP_001138999.1:p.Arg612His
NM_024757.4:c.1835G>A	NP_079033.4:p.Arg612His
XM_005266105.3:c.1826G>A	XP_005266162.1:p.Arg609His
XM_005266110.1:c.1742G>A	XP_005266167.1:p.Arg581His
XM_006717288.2:c.1817G>A	XP_006717351.1:p.Arg606His
XM_011519021.1:c.1844G>A	XP_011517323.1:p.Arg615His
XM_011519022.1:c.1841G>A	XP_011517324.1:p.Arg614His
XM_011519023.1:c.1823G>A	XP_011517325.1:p.Arg608His
XM_011519024.1:c.1766G>A	XP_011517326.1:p.Arg589His
XM_011519025.1:c.1742G>A	XP_011517327.1:p.Arg581His
XM_011519026.1:c.1700G>A	XP_011517328.1:p.Arg567His
XM_011519027.1:c.1844G>A	XP_011517329.1:p.Arg615His
XM_011519028.1:c.1844G>A	XP_011517330.1:p.Arg615His
XM_011519029.1:c.266G>A	XP_011517331.1:p.Arg89His
XM_011519033.1:c.1679G>A	XP_011517335.1:p.Arg560His
NM_001354259.1:c.1742G>A	NP_001341188.1:p.Arg581His
NM_001354263.1:c.1814G>A	NP_001341192.1:p.Arg605His
XM_005266105.5:c.1826G>A	XP_005266162.1:p.Arg609His
XM_011519021.3:c.1844G>A	XP_011517323.1:p.Arg615His
XM_011519022.3:c.1841G>A	XP_011517324.1:p.Arg614His
XM_011519023.3:c.1823G>A	XP_011517325.1:p.Arg608His
XM_011519029.3:c.266G>A	XP_011517331.1:p.Arg89His
XM_017015134.1:c.1820G>A	XP_016870623.1:p.Arg607His
XM_017015136.2:c.1736G>A	XP_016870625.1:p.Arg579His
XM_017015137.1:c.1721G>A	XP_016870626.1:p.Arg574His
XM_017015138.1:c.1721G>A	XP_016870627.1:p.Arg574His
XM_024447674.1:c.1664G>A	XP_024303442.1:p.Arg555His
XM_024447675.1:c.1598G>A	XP_024303443.1:p.Arg533His
XM_024447676.1:c.959G>A	XP_024303444.1:p.Arg320His
XM_024447677.1:c.959G>A	XP_024303445.1:p.Arg320His
XM_024447678.1:c.1742G>A	XP_024303446.1:p.Arg581His
XM_024447679.1:c.1742G>A	XP_024303447.1:p.Arg581His
XM_024447680.1:c.1577G>A	XP_024303448.1:p.Arg526His
NM_024757.5:c.1835G>A MANE Select	NP_079033.4:p.Arg612His
NM_001145527.2:c.1835G>A	NP_001138999.1:p.Arg612His
NM_001354259.2:c.1742G>A	NP_001341188.1:p.Arg581His
NM_001354263.2:c.1814G>A	NP_001341192.1:p.Arg605His