Canonical Allele Identifier: CA209012

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 210918
• ClinVar RCV Id: RCV000194680 ; RCV000304741 ; RCV002317681 ; RCV001706166
• dbSNP Id: rs199839806
• ExAC: 9:140671228 C / T
• gnomAD v2: 9-140671228-C-T
• gnomAD v3: 9-137776776-C-T
• gnomAD v4: 9-137776776-C-T
• MyVariant Identifiers: chr9:g.140671228C>T (hg19) ; chr9:g.137776776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776776C>T , CM000671.2:g.137776776C>T	GRCh38
NC_000009.11:g.140671228C>T , CM000671.1:g.140671228C>T	GRCh37
NC_000009.10:g.139791049C>T	NCBI36
NG_011776.1:g.162785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1950C>T MANE Select	ENSP00000417980.1:p.Thr650=
ENST00000636027.1:c.1836C>T	ENSP00000489961.1:p.Thr612=
ENST00000637161.1:c.1857C>T	ENSP00000490328.1:p.Thr619=
ENST00000637261.1:c.1990C>T	ENSP00000490815.1:n.1990C>T
ENST00000638071.1:c.1577C>T
ENST00000640639.1:c.1119C>T	ENSP00000491823.1:p.Thr373=
ENST00000371394.6:c.*1685C>T	ENSP00000485945.1:n.*1685C>T
ENST00000460843.5:c.1950C>T	ENSP00000417980.1:p.Thr650=
ENST00000462484.5:c.1950C>T	ENSP00000417328.1:p.Thr650=
ENST00000462942.3:c.807C>T	ENSP00000436107.1:p.Thr269=
ENST00000465566.2:c.498C>T	ENSP00000486261.1:p.Thr166=
ENST00000626603.1:n.1673G>A
NM_001145527.1:c.1950C>T	NP_001138999.1:p.Thr650=
NM_024757.4:c.1950C>T	NP_079033.4:p.Thr650=
XM_005266105.3:c.1941C>T	XP_005266162.1:p.Thr647=
XM_005266110.1:c.1857C>T	XP_005266167.1:p.Thr619=
XM_006717288.2:c.1932C>T	XP_006717351.1:p.Thr644=
XM_011519021.1:c.1959C>T	XP_011517323.1:p.Thr653=
XM_011519022.1:c.1956C>T	XP_011517324.1:p.Thr652=
XM_011519023.1:c.1938C>T	XP_011517325.1:p.Thr646=
XM_011519024.1:c.1881C>T	XP_011517326.1:p.Thr627=
XM_011519025.1:c.1857C>T	XP_011517327.1:p.Thr619=
XM_011519026.1:c.1815C>T	XP_011517328.1:p.Thr605=
XM_011519027.1:c.1959C>T	XP_011517329.1:p.Thr653=
XM_011519028.1:c.1959C>T	XP_011517330.1:p.Thr653=
XM_011519029.1:c.381C>T	XP_011517331.1:p.Thr127=
XM_011519033.1:c.1794C>T	XP_011517335.1:p.Thr598=
NM_001354259.1:c.1857C>T	NP_001341188.1:p.Thr619=
NM_001354263.1:c.1929C>T	NP_001341192.1:p.Thr643=
XM_005266105.5:c.1941C>T	XP_005266162.1:p.Thr647=
XM_011519021.3:c.1959C>T	XP_011517323.1:p.Thr653=
XM_011519022.3:c.1956C>T	XP_011517324.1:p.Thr652=
XM_011519023.3:c.1938C>T	XP_011517325.1:p.Thr646=
XM_011519029.3:c.381C>T	XP_011517331.1:p.Thr127=
XM_017015134.1:c.1935C>T	XP_016870623.1:p.Thr645=
XM_017015136.2:c.1851C>T	XP_016870625.1:p.Thr617=
XM_017015137.1:c.1836C>T	XP_016870626.1:p.Thr612=
XM_017015138.1:c.1836C>T	XP_016870627.1:p.Thr612=
XM_024447674.1:c.1779C>T	XP_024303442.1:p.Thr593=
XM_024447675.1:c.1713C>T	XP_024303443.1:p.Thr571=
XM_024447676.1:c.1074C>T	XP_024303444.1:p.Thr358=
XM_024447677.1:c.1074C>T	XP_024303445.1:p.Thr358=
XM_024447678.1:c.1857C>T	XP_024303446.1:p.Thr619=
XM_024447679.1:c.1857C>T	XP_024303447.1:p.Thr619=
XM_024447680.1:c.1692C>T	XP_024303448.1:p.Thr564=
NM_024757.5:c.1950C>T MANE Select	NP_079033.4:p.Thr650=
NM_001145527.2:c.1950C>T	NP_001138999.1:p.Thr650=
NM_001354259.2:c.1857C>T	NP_001341188.1:p.Thr619=
NM_001354263.2:c.1929C>T	NP_001341192.1:p.Thr643=