Canonical Allele Identifier: CA5374762

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2079214
• ClinVar RCV Id: RCV002995225
• dbSNP Id: rs781433588
• ExAC: 9:140671234 A / G
• gnomAD v2: 9-140671234-A-G
• gnomAD v4: 9-137776782-A-G
• MyVariant Identifiers: chr9:g.140671234A>G (hg19) ; chr9:g.137776782A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776782A>G , CM000671.2:g.137776782A>G	GRCh38
NC_000009.11:g.140671234A>G , CM000671.1:g.140671234A>G	GRCh37
NC_000009.10:g.139791055A>G	NCBI36
NG_011776.1:g.162791A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1956A>G MANE Select	ENSP00000417980.1:p.Thr652=
ENST00000636027.1:c.1842A>G	ENSP00000489961.1:p.Thr614=
ENST00000637161.1:c.1863A>G	ENSP00000490328.1:p.Thr621=
ENST00000637261.1:c.1996A>G	ENSP00000490815.1:n.1996A>G
ENST00000638071.1:c.1583A>G
ENST00000640639.1:c.1125A>G	ENSP00000491823.1:p.Thr375=
ENST00000371394.6:c.*1691A>G	ENSP00000485945.1:n.*1691A>G
ENST00000460843.5:c.1956A>G	ENSP00000417980.1:p.Thr652=
ENST00000462484.5:c.1956A>G	ENSP00000417328.1:p.Thr652=
ENST00000462942.3:c.813A>G	ENSP00000436107.1:p.Thr271=
ENST00000626603.1:n.1667T>C
NM_001145527.1:c.1956A>G	NP_001138999.1:p.Thr652=
NM_024757.4:c.1956A>G	NP_079033.4:p.Thr652=
XM_005266105.3:c.1947A>G	XP_005266162.1:p.Thr649=
XM_005266110.1:c.1863A>G	XP_005266167.1:p.Thr621=
XM_006717288.2:c.1938A>G	XP_006717351.1:p.Thr646=
XM_011519021.1:c.1965A>G	XP_011517323.1:p.Thr655=
XM_011519022.1:c.1962A>G	XP_011517324.1:p.Thr654=
XM_011519023.1:c.1944A>G	XP_011517325.1:p.Thr648=
XM_011519024.1:c.1887A>G	XP_011517326.1:p.Thr629=
XM_011519025.1:c.1863A>G	XP_011517327.1:p.Thr621=
XM_011519026.1:c.1821A>G	XP_011517328.1:p.Thr607=
XM_011519027.1:c.1965A>G	XP_011517329.1:p.Thr655=
XM_011519028.1:c.1965A>G	XP_011517330.1:p.Thr655=
XM_011519029.1:c.387A>G	XP_011517331.1:p.Thr129=
XM_011519033.1:c.1800A>G	XP_011517335.1:p.Thr600=
NM_001354259.1:c.1863A>G	NP_001341188.1:p.Thr621=
NM_001354263.1:c.1935A>G	NP_001341192.1:p.Thr645=
XM_005266105.5:c.1947A>G	XP_005266162.1:p.Thr649=
XM_011519021.3:c.1965A>G	XP_011517323.1:p.Thr655=
XM_011519022.3:c.1962A>G	XP_011517324.1:p.Thr654=
XM_011519023.3:c.1944A>G	XP_011517325.1:p.Thr648=
XM_011519029.3:c.387A>G	XP_011517331.1:p.Thr129=
XM_017015134.1:c.1941A>G	XP_016870623.1:p.Thr647=
XM_017015136.2:c.1857A>G	XP_016870625.1:p.Thr619=
XM_017015137.1:c.1842A>G	XP_016870626.1:p.Thr614=
XM_017015138.1:c.1842A>G	XP_016870627.1:p.Thr614=
XM_024447674.1:c.1785A>G	XP_024303442.1:p.Thr595=
XM_024447675.1:c.1719A>G	XP_024303443.1:p.Thr573=
XM_024447676.1:c.1080A>G	XP_024303444.1:p.Thr360=
XM_024447677.1:c.1080A>G	XP_024303445.1:p.Thr360=
XM_024447678.1:c.1863A>G	XP_024303446.1:p.Thr621=
XM_024447679.1:c.1863A>G	XP_024303447.1:p.Thr621=
XM_024447680.1:c.1698A>G	XP_024303448.1:p.Thr566=
NM_024757.5:c.1956A>G MANE Select	NP_079033.4:p.Thr652=
NM_001145527.2:c.1956A>G	NP_001138999.1:p.Thr652=
NM_001354259.2:c.1863A>G	NP_001341188.1:p.Thr621=
NM_001354263.2:c.1935A>G	NP_001341192.1:p.Thr645=