Canonical Allele Identifier: CA375788752

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 916085
• ClinVar RCV Id: RCV001171587
• dbSNP Id: rs1953423865
• MyVariant Identifiers: chr9:g.140695348C>G (hg19) ; chr9:g.137800896C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800896C>G , CM000671.2:g.137800896C>G	GRCh38
NC_000009.11:g.140695348C>G , CM000671.1:g.140695348C>G	GRCh37
NC_000009.10:g.139815169C>G	NCBI36
NG_011776.1:g.186905C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2624C>G MANE Select	ENSP00000417980.1:p.Thr875Arg
ENST00000636027.1:c.2510C>G	ENSP00000489961.1:p.Thr837Arg
ENST00000637161.1:c.2531C>G	ENSP00000490328.1:p.Thr844Arg
ENST00000637261.1:c.2664C>G	ENSP00000490815.1:n.2664C>G
ENST00000637891.1:c.518C>G	ENSP00000490907.1:p.Thr173Arg
ENST00000637949.1:c.302C>G	ENSP00000489786.1:p.Thr101Arg
ENST00000460843.5:c.2624C>G	ENSP00000417980.1:p.Thr875Arg
ENST00000462942.3:c.1481C>G	ENSP00000436107.1:p.Thr494Arg
ENST00000482340.5:c.194C>G	ENSP00000486748.1:p.Thr65Arg
ENST00000486164.5:c.202C>G
ENST00000488242.2:n.150C>G
ENST00000493484.5:c.194C>G	ENSP00000486503.1:p.Thr65Arg
NM_024757.4:c.2624C>G	NP_079033.4:p.Thr875Arg
XM_005266105.3:c.2615C>G	XP_005266162.1:p.Thr872Arg
XM_005266110.1:c.2531C>G	XP_005266167.1:p.Thr844Arg
XM_006717288.2:c.2606C>G	XP_006717351.1:p.Thr869Arg
XM_011519021.1:c.2633C>G	XP_011517323.1:p.Thr878Arg
XM_011519022.1:c.2630C>G	XP_011517324.1:p.Thr877Arg
XM_011519023.1:c.2612C>G	XP_011517325.1:p.Thr871Arg
XM_011519024.1:c.2555C>G	XP_011517326.1:p.Thr852Arg
XM_011519025.1:c.2531C>G	XP_011517327.1:p.Thr844Arg
XM_011519026.1:c.2489C>G	XP_011517328.1:p.Thr830Arg
XM_011519027.1:c.2633C>G	XP_011517329.1:p.Thr878Arg
XM_011519029.1:c.1055C>G	XP_011517331.1:p.Thr352Arg
XM_011519030.1:c.407C>G	XP_011517332.1:p.Thr136Arg
XM_011519031.1:c.194C>G	XP_011517333.1:p.Thr65Arg
XM_011519032.1:c.194C>G	XP_011517334.1:p.Thr65Arg
XM_011519033.1:c.2468C>G	XP_011517335.1:p.Thr823Arg
NM_001354263.1:c.2603C>G	NP_001341192.1:p.Thr868Arg
XM_005266105.5:c.2615C>G	XP_005266162.1:p.Thr872Arg
XM_011519021.3:c.2633C>G	XP_011517323.1:p.Thr878Arg
XM_011519022.3:c.2630C>G	XP_011517324.1:p.Thr877Arg
XM_011519023.3:c.2612C>G	XP_011517325.1:p.Thr871Arg
XM_011519029.3:c.1055C>G	XP_011517331.1:p.Thr352Arg
XM_011519030.3:c.407C>G	XP_011517332.1:p.Thr136Arg
XM_017015134.1:c.2609C>G	XP_016870623.1:p.Thr870Arg
XM_017015136.2:c.2525C>G	XP_016870625.1:p.Thr842Arg
XM_017015137.1:c.2510C>G	XP_016870626.1:p.Thr837Arg
XM_017015138.1:c.2510C>G	XP_016870627.1:p.Thr837Arg
XM_024447674.1:c.2453C>G	XP_024303442.1:p.Thr818Arg
XM_024447675.1:c.2387C>G	XP_024303443.1:p.Thr796Arg
XM_024447676.1:c.1748C>G	XP_024303444.1:p.Thr583Arg
XM_024447677.1:c.1748C>G	XP_024303445.1:p.Thr583Arg
XM_024447678.1:c.2531C>G	XP_024303446.1:p.Thr844Arg
XM_024447680.1:c.2366C>G	XP_024303448.1:p.Thr789Arg
NM_024757.5:c.2624C>G MANE Select	NP_079033.4:p.Thr875Arg
NM_001354263.2:c.2603C>G	NP_001341192.1:p.Thr868Arg