Canonical Allele Identifier: CA5375350

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 531871
• ClinVar RCV Id: RCV000638416
• dbSNP Id: rs748135858
• ExAC: 9:140712572 C / T
• gnomAD v2: 9-140712572-C-T
• gnomAD v3: 9-137818120-C-T
• gnomAD v4: 9-137818120-C-T
• MyVariant Identifiers: chr9:g.140712572C>T (hg19) ; chr9:g.137818120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818120C>T , CM000671.2:g.137818120C>T	GRCh38
NC_000009.11:g.140712572C>T , CM000671.1:g.140712572C>T	GRCh37
NC_000009.10:g.139832393C>T	NCBI36
NG_011776.1:g.204129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3522C>T MANE Select	ENSP00000417980.1:p.Leu1174=
ENST00000636472.1:n.84C>T
ENST00000636526.1:n.8C>T
ENST00000637161.1:c.3429C>T	ENSP00000490328.1:p.Leu1143=
ENST00000637261.1:c.4096C>T	ENSP00000490815.1:n.4096C>T
ENST00000637748.1:n.503C>T
ENST00000637891.1:c.1596C>T	ENSP00000490907.1:n.1596C>T
ENST00000460843.5:c.3522C>T	ENSP00000417980.1:p.Leu1174=
ENST00000462942.3:c.2379C>T	ENSP00000436107.1:p.Leu793=
ENST00000475564.5:n.1246C>T
ENST00000494249.5:n.875C>T
NM_024757.4:c.3522C>T	NP_079033.4:p.Leu1174=
XM_005266105.3:c.3513C>T	XP_005266162.1:p.Leu1171=
XM_005266110.1:c.3429C>T	XP_005266167.1:p.Leu1143=
XM_006717288.2:c.3504C>T	XP_006717351.1:p.Leu1168=
XM_011519021.1:c.3531C>T	XP_011517323.1:p.Leu1177=
XM_011519022.1:c.3528C>T	XP_011517324.1:p.Leu1176=
XM_011519023.1:c.3510C>T	XP_011517325.1:p.Leu1170=
XM_011519024.1:c.3453C>T	XP_011517326.1:p.Leu1151=
XM_011519025.1:c.3429C>T	XP_011517327.1:p.Leu1143=
XM_011519026.1:c.3387C>T	XP_011517328.1:p.Leu1129=
XM_011519029.1:c.1953C>T	XP_011517331.1:p.Leu651=
XM_011519030.1:c.1305C>T	XP_011517332.1:p.Leu435=
XM_011519031.1:c.1092C>T	XP_011517333.1:p.Leu364=
XM_011519032.1:c.1092C>T	XP_011517334.1:p.Leu364=
XM_011519033.1:c.3366C>T	XP_011517335.1:p.Leu1122=
XR_930459.1:n.5297-3558G>A
NM_001354263.1:c.3501C>T	NP_001341192.1:p.Leu1167=
XM_005266105.5:c.3513C>T	XP_005266162.1:p.Leu1171=
XM_011519021.3:c.3531C>T	XP_011517323.1:p.Leu1177=
XM_011519022.3:c.3528C>T	XP_011517324.1:p.Leu1176=
XM_011519023.3:c.3510C>T	XP_011517325.1:p.Leu1170=
XM_011519029.3:c.1953C>T	XP_011517331.1:p.Leu651=
XM_011519030.3:c.1305C>T	XP_011517332.1:p.Leu435=
XM_017015134.1:c.3507C>T	XP_016870623.1:p.Leu1169=
XM_017015136.2:c.3423C>T	XP_016870625.1:p.Leu1141=
XM_017015137.1:c.3408C>T	XP_016870626.1:p.Leu1136=
XM_017015138.1:c.3408C>T	XP_016870627.1:p.Leu1136=
XM_024447674.1:c.3351C>T	XP_024303442.1:p.Leu1117=
XM_024447675.1:c.3285C>T	XP_024303443.1:p.Leu1095=
XM_024447676.1:c.2646C>T	XP_024303444.1:p.Leu882=
XM_024447677.1:c.2646C>T	XP_024303445.1:p.Leu882=
XM_024447680.1:c.3264C>T	XP_024303448.1:p.Leu1088=
NM_024757.5:c.3522C>T MANE Select	NP_079033.4:p.Leu1174=
NM_001354263.2:c.3501C>T	NP_001341192.1:p.Leu1167=