Canonical Allele Identifier: CA468161105

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 763143
• ClinVar RCV Id: RCV000941354
• dbSNP Id: rs1166402157
• gnomAD v2: 9-140707611-G-A
• gnomAD v4: 9-137813159-G-A
• MyVariant Identifiers: chr9:g.140707611G>A (hg19) ; chr9:g.137813159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813159G>A , CM000671.2:g.137813159G>A	GRCh38
NC_000009.11:g.140707611G>A , CM000671.1:g.140707611G>A	GRCh37
NC_000009.10:g.139827432G>A	NCBI36
NG_011776.1:g.199168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3021G>A MANE Select	ENSP00000417980.1:p.Glu1007=
ENST00000636027.1:c.2907G>A	ENSP00000489961.1:p.Glu969=
ENST00000637161.1:c.2928G>A	ENSP00000490328.1:p.Glu976=
ENST00000637261.1:c.3061G>A	ENSP00000490815.1:n.3061G>A
ENST00000637891.1:c.915G>A	ENSP00000490907.1:p.Glu305=
ENST00000460843.5:c.3021G>A	ENSP00000417980.1:p.Glu1007=
ENST00000462942.3:c.1878G>A	ENSP00000436107.1:p.Glu626=
ENST00000486164.5:c.708G>A
ENST00000488242.2:n.547G>A
NM_024757.4:c.3021G>A	NP_079033.4:p.Glu1007=
XM_005266105.3:c.3012G>A	XP_005266162.1:p.Glu1004=
XM_005266110.1:c.2928G>A	XP_005266167.1:p.Glu976=
XM_006717288.2:c.3003G>A	XP_006717351.1:p.Glu1001=
XM_011519021.1:c.3030G>A	XP_011517323.1:p.Glu1010=
XM_011519022.1:c.3027G>A	XP_011517324.1:p.Glu1009=
XM_011519023.1:c.3009G>A	XP_011517325.1:p.Glu1003=
XM_011519024.1:c.2952G>A	XP_011517326.1:p.Glu984=
XM_011519025.1:c.2928G>A	XP_011517327.1:p.Glu976=
XM_011519026.1:c.2886G>A	XP_011517328.1:p.Glu962=
XM_011519029.1:c.1452G>A	XP_011517331.1:p.Glu484=
XM_011519030.1:c.804G>A	XP_011517332.1:p.Glu268=
XM_011519031.1:c.591G>A	XP_011517333.1:p.Glu197=
XM_011519032.1:c.591G>A	XP_011517334.1:p.Glu197=
XM_011519033.1:c.2865G>A	XP_011517335.1:p.Glu955=
NM_001354263.1:c.3000G>A	NP_001341192.1:p.Glu1000=
XM_005266105.5:c.3012G>A	XP_005266162.1:p.Glu1004=
XM_011519021.3:c.3030G>A	XP_011517323.1:p.Glu1010=
XM_011519022.3:c.3027G>A	XP_011517324.1:p.Glu1009=
XM_011519023.3:c.3009G>A	XP_011517325.1:p.Glu1003=
XM_011519029.3:c.1452G>A	XP_011517331.1:p.Glu484=
XM_011519030.3:c.804G>A	XP_011517332.1:p.Glu268=
XM_017015134.1:c.3006G>A	XP_016870623.1:p.Glu1002=
XM_017015136.2:c.2922G>A	XP_016870625.1:p.Glu974=
XM_017015137.1:c.2907G>A	XP_016870626.1:p.Glu969=
XM_017015138.1:c.2907G>A	XP_016870627.1:p.Glu969=
XM_024447674.1:c.2850G>A	XP_024303442.1:p.Glu950=
XM_024447675.1:c.2784G>A	XP_024303443.1:p.Glu928=
XM_024447676.1:c.2145G>A	XP_024303444.1:p.Glu715=
XM_024447677.1:c.2145G>A	XP_024303445.1:p.Glu715=
XM_024447680.1:c.2763G>A	XP_024303448.1:p.Glu921=
NM_024757.5:c.3021G>A MANE Select	NP_079033.4:p.Glu1007=
NM_001354263.2:c.3000G>A	NP_001341192.1:p.Glu1000=