Canonical Allele Identifier: CA201800362

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 839287
• ClinVar RCV Id: RCV001041005 ; RCV002552497
• dbSNP Id: rs371824384
• gnomAD v3: 9-137818130-G-A
• gnomAD v4: 9-137818130-G-A
• COSMIC: COSM266452
• MyVariant Identifiers: chr9:g.140712582G>A (hg19) ; chr9:g.137818130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818130G>A , CM000671.2:g.137818130G>A	GRCh38
NC_000009.11:g.140712582G>A , CM000671.1:g.140712582G>A	GRCh37
NC_000009.10:g.139832403G>A	NCBI36
NG_011776.1:g.204139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3532G>A MANE Select	ENSP00000417980.1:p.Asp1178Asn
ENST00000636472.1:n.94G>A
ENST00000636526.1:n.18G>A
ENST00000637161.1:c.3439G>A	ENSP00000490328.1:p.Asp1147Asn
ENST00000637261.1:c.4106G>A	ENSP00000490815.1:n.4106G>A
ENST00000637748.1:n.513G>A
ENST00000637891.1:c.1606G>A	ENSP00000490907.1:n.1606G>A
ENST00000460843.5:c.3532G>A	ENSP00000417980.1:p.Asp1178Asn
ENST00000462942.3:c.2389G>A	ENSP00000436107.1:p.Asp797Asn
ENST00000475564.5:n.1256G>A
ENST00000494249.5:n.885G>A
NM_024757.4:c.3532G>A	NP_079033.4:p.Asp1178Asn
XM_005266105.3:c.3523G>A	XP_005266162.1:p.Asp1175Asn
XM_005266110.1:c.3439G>A	XP_005266167.1:p.Asp1147Asn
XM_006717288.2:c.3514G>A	XP_006717351.1:p.Asp1172Asn
XM_011519021.1:c.3541G>A	XP_011517323.1:p.Asp1181Asn
XM_011519022.1:c.3538G>A	XP_011517324.1:p.Asp1180Asn
XM_011519023.1:c.3520G>A	XP_011517325.1:p.Asp1174Asn
XM_011519024.1:c.3463G>A	XP_011517326.1:p.Asp1155Asn
XM_011519025.1:c.3439G>A	XP_011517327.1:p.Asp1147Asn
XM_011519026.1:c.3397G>A	XP_011517328.1:p.Asp1133Asn
XM_011519029.1:c.1963G>A	XP_011517331.1:p.Asp655Asn
XM_011519030.1:c.1315G>A	XP_011517332.1:p.Asp439Asn
XM_011519031.1:c.1102G>A	XP_011517333.1:p.Asp368Asn
XM_011519032.1:c.1102G>A	XP_011517334.1:p.Asp368Asn
XM_011519033.1:c.3376G>A	XP_011517335.1:p.Asp1126Asn
XR_930459.1:n.5297-3568C>T
NM_001354263.1:c.3511G>A	NP_001341192.1:p.Asp1171Asn
XM_005266105.5:c.3523G>A	XP_005266162.1:p.Asp1175Asn
XM_011519021.3:c.3541G>A	XP_011517323.1:p.Asp1181Asn
XM_011519022.3:c.3538G>A	XP_011517324.1:p.Asp1180Asn
XM_011519023.3:c.3520G>A	XP_011517325.1:p.Asp1174Asn
XM_011519029.3:c.1963G>A	XP_011517331.1:p.Asp655Asn
XM_011519030.3:c.1315G>A	XP_011517332.1:p.Asp439Asn
XM_017015134.1:c.3517G>A	XP_016870623.1:p.Asp1173Asn
XM_017015136.2:c.3433G>A	XP_016870625.1:p.Asp1145Asn
XM_017015137.1:c.3418G>A	XP_016870626.1:p.Asp1140Asn
XM_017015138.1:c.3418G>A	XP_016870627.1:p.Asp1140Asn
XM_024447674.1:c.3361G>A	XP_024303442.1:p.Asp1121Asn
XM_024447675.1:c.3295G>A	XP_024303443.1:p.Asp1099Asn
XM_024447676.1:c.2656G>A	XP_024303444.1:p.Asp886Asn
XM_024447677.1:c.2656G>A	XP_024303445.1:p.Asp886Asn
XM_024447680.1:c.3274G>A	XP_024303448.1:p.Asp1092Asn
NM_024757.5:c.3532G>A MANE Select	NP_079033.4:p.Asp1178Asn
NM_001354263.2:c.3511G>A	NP_001341192.1:p.Asp1171Asn