Canonical Allele Identifier: CA5374744

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 418177
• ClinVar RCV Id: RCV003502529
• dbSNP Id: rs369492404
• ExAC: 9:140671094 G / A
• gnomAD v2: 9-140671094-G-A
• gnomAD v3: 9-137776642-G-A
• gnomAD v4: 9-137776642-G-A
• MyVariant Identifiers: chr9:g.140671094G>A (hg19) ; chr9:g.137776642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776642G>A , CM000671.2:g.137776642G>A	GRCh38
NC_000009.11:g.140671094G>A , CM000671.1:g.140671094G>A	GRCh37
NC_000009.10:g.139790915G>A	NCBI36
NG_011776.1:g.162651G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1816G>A MANE Select	ENSP00000417980.1:p.Glu606Lys
ENST00000636027.1:c.1702G>A	ENSP00000489961.1:p.Glu568Lys
ENST00000637161.1:c.1723G>A	ENSP00000490328.1:p.Glu575Lys
ENST00000637261.1:c.1856G>A	ENSP00000490815.1:n.1856G>A
ENST00000638071.1:c.1443G>A
ENST00000640639.1:c.985G>A	ENSP00000491823.1:p.Glu329Lys
ENST00000371394.6:c.*1551G>A	ENSP00000485945.1:n.*1551G>A
ENST00000460843.5:c.1816G>A	ENSP00000417980.1:p.Glu606Lys
ENST00000462484.5:c.1816G>A	ENSP00000417328.1:p.Glu606Lys
ENST00000462942.3:c.673G>A	ENSP00000436107.1:p.Glu225Lys
ENST00000465566.2:c.364G>A	ENSP00000486261.1:p.Glu122Lys
ENST00000626603.1:n.1807C>T
NM_001145527.1:c.1816G>A	NP_001138999.1:p.Glu606Lys
NM_024757.4:c.1816G>A	NP_079033.4:p.Glu606Lys
XM_005266105.3:c.1807G>A	XP_005266162.1:p.Glu603Lys
XM_005266110.1:c.1723G>A	XP_005266167.1:p.Glu575Lys
XM_006717288.2:c.1798G>A	XP_006717351.1:p.Glu600Lys
XM_011519021.1:c.1825G>A	XP_011517323.1:p.Glu609Lys
XM_011519022.1:c.1822G>A	XP_011517324.1:p.Glu608Lys
XM_011519023.1:c.1804G>A	XP_011517325.1:p.Glu602Lys
XM_011519024.1:c.1747G>A	XP_011517326.1:p.Glu583Lys
XM_011519025.1:c.1723G>A	XP_011517327.1:p.Glu575Lys
XM_011519026.1:c.1681G>A	XP_011517328.1:p.Glu561Lys
XM_011519027.1:c.1825G>A	XP_011517329.1:p.Glu609Lys
XM_011519028.1:c.1825G>A	XP_011517330.1:p.Glu609Lys
XM_011519029.1:c.247G>A	XP_011517331.1:p.Glu83Lys
XM_011519033.1:c.1660G>A	XP_011517335.1:p.Glu554Lys
NM_001354259.1:c.1723G>A	NP_001341188.1:p.Glu575Lys
NM_001354263.1:c.1795G>A	NP_001341192.1:p.Glu599Lys
XM_005266105.5:c.1807G>A	XP_005266162.1:p.Glu603Lys
XM_011519021.3:c.1825G>A	XP_011517323.1:p.Glu609Lys
XM_011519022.3:c.1822G>A	XP_011517324.1:p.Glu608Lys
XM_011519023.3:c.1804G>A	XP_011517325.1:p.Glu602Lys
XM_011519029.3:c.247G>A	XP_011517331.1:p.Glu83Lys
XM_017015134.1:c.1801G>A	XP_016870623.1:p.Glu601Lys
XM_017015136.2:c.1717G>A	XP_016870625.1:p.Glu573Lys
XM_017015137.1:c.1702G>A	XP_016870626.1:p.Glu568Lys
XM_017015138.1:c.1702G>A	XP_016870627.1:p.Glu568Lys
XM_024447674.1:c.1645G>A	XP_024303442.1:p.Glu549Lys
XM_024447675.1:c.1579G>A	XP_024303443.1:p.Glu527Lys
XM_024447676.1:c.940G>A	XP_024303444.1:p.Glu314Lys
XM_024447677.1:c.940G>A	XP_024303445.1:p.Glu314Lys
XM_024447678.1:c.1723G>A	XP_024303446.1:p.Glu575Lys
XM_024447679.1:c.1723G>A	XP_024303447.1:p.Glu575Lys
XM_024447680.1:c.1558G>A	XP_024303448.1:p.Glu520Lys
NM_024757.5:c.1816G>A MANE Select	NP_079033.4:p.Glu606Lys
NM_001145527.2:c.1816G>A	NP_001138999.1:p.Glu606Lys
NM_001354259.2:c.1723G>A	NP_001341188.1:p.Glu575Lys
NM_001354263.2:c.1795G>A	NP_001341192.1:p.Glu599Lys