Canonical Allele Identifier: CA5375348

Gene: EHMT1

Linked Data

• dbSNP Id: rs748842197
• ExAC: 9:140712549 G / A
• gnomAD v2: 9-140712549-G-A
• gnomAD v3: 9-137818097-G-A
• gnomAD v4: 9-137818097-G-A
• MyVariant Identifiers: chr9:g.140712549G>A (hg19) ; chr9:g.137818097G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818097G>A , CM000671.2:g.137818097G>A	GRCh38
NC_000009.11:g.140712549G>A , CM000671.1:g.140712549G>A	GRCh37
NC_000009.10:g.139832370G>A	NCBI36
NG_011776.1:g.204106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3499G>A MANE Select	ENSP00000417980.1:p.Val1167Ile
ENST00000636472.1:n.61G>A
ENST00000637161.1:c.3406G>A	ENSP00000490328.1:p.Val1136Ile
ENST00000637261.1:c.4073G>A	ENSP00000490815.1:n.4073G>A
ENST00000637748.1:n.480G>A
ENST00000637891.1:c.1573G>A	ENSP00000490907.1:n.1573G>A
ENST00000460843.5:c.3499G>A	ENSP00000417980.1:p.Val1167Ile
ENST00000462942.3:c.2356G>A	ENSP00000436107.1:p.Val786Ile
ENST00000475564.5:n.1223G>A
ENST00000494249.5:n.852G>A
NM_024757.4:c.3499G>A	NP_079033.4:p.Val1167Ile
XM_005266105.3:c.3490G>A	XP_005266162.1:p.Val1164Ile
XM_005266110.1:c.3406G>A	XP_005266167.1:p.Val1136Ile
XM_006717288.2:c.3481G>A	XP_006717351.1:p.Val1161Ile
XM_011519021.1:c.3508G>A	XP_011517323.1:p.Val1170Ile
XM_011519022.1:c.3505G>A	XP_011517324.1:p.Val1169Ile
XM_011519023.1:c.3487G>A	XP_011517325.1:p.Val1163Ile
XM_011519024.1:c.3430G>A	XP_011517326.1:p.Val1144Ile
XM_011519025.1:c.3406G>A	XP_011517327.1:p.Val1136Ile
XM_011519026.1:c.3364G>A	XP_011517328.1:p.Val1122Ile
XM_011519029.1:c.1930G>A	XP_011517331.1:p.Val644Ile
XM_011519030.1:c.1282G>A	XP_011517332.1:p.Val428Ile
XM_011519031.1:c.1069G>A	XP_011517333.1:p.Val357Ile
XM_011519032.1:c.1069G>A	XP_011517334.1:p.Val357Ile
XM_011519033.1:c.3343G>A	XP_011517335.1:p.Val1115Ile
XR_930459.1:n.5297-3535C>T
NM_001354263.1:c.3478G>A	NP_001341192.1:p.Val1160Ile
XM_005266105.5:c.3490G>A	XP_005266162.1:p.Val1164Ile
XM_011519021.3:c.3508G>A	XP_011517323.1:p.Val1170Ile
XM_011519022.3:c.3505G>A	XP_011517324.1:p.Val1169Ile
XM_011519023.3:c.3487G>A	XP_011517325.1:p.Val1163Ile
XM_011519029.3:c.1930G>A	XP_011517331.1:p.Val644Ile
XM_011519030.3:c.1282G>A	XP_011517332.1:p.Val428Ile
XM_017015134.1:c.3484G>A	XP_016870623.1:p.Val1162Ile
XM_017015136.2:c.3400G>A	XP_016870625.1:p.Val1134Ile
XM_017015137.1:c.3385G>A	XP_016870626.1:p.Val1129Ile
XM_017015138.1:c.3385G>A	XP_016870627.1:p.Val1129Ile
XM_024447674.1:c.3328G>A	XP_024303442.1:p.Val1110Ile
XM_024447675.1:c.3262G>A	XP_024303443.1:p.Val1088Ile
XM_024447676.1:c.2623G>A	XP_024303444.1:p.Val875Ile
XM_024447677.1:c.2623G>A	XP_024303445.1:p.Val875Ile
XM_024447680.1:c.3241G>A	XP_024303448.1:p.Val1081Ile
NM_024757.5:c.3499G>A MANE Select	NP_079033.4:p.Val1167Ile
NM_001354263.2:c.3478G>A	NP_001341192.1:p.Val1160Ile