Canonical Allele Identifier: CA201812

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 195533
• ClinVar RCV Id: RCV000176118 ; RCV000341037 ; RCV000514513 ; RCV002317021 ; RCV003937591
• dbSNP Id: rs138283222
• ExAC: 9:140707601 G / A
• gnomAD v2: 9-140707601-G-A
• gnomAD v3: 9-137813149-G-A
• gnomAD v4: 9-137813149-G-A
• MyVariant Identifiers: chr9:g.140707601G>A (hg19) ; chr9:g.137813149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813149G>A , CM000671.2:g.137813149G>A	GRCh38
NC_000009.11:g.140707601G>A , CM000671.1:g.140707601G>A	GRCh37
NC_000009.10:g.139827422G>A	NCBI36
NG_011776.1:g.199158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3011G>A MANE Select	ENSP00000417980.1:p.Ser1004Asn
ENST00000636027.1:c.2897G>A	ENSP00000489961.1:p.Ser966Asn
ENST00000637161.1:c.2918G>A	ENSP00000490328.1:p.Ser973Asn
ENST00000637261.1:c.3051G>A	ENSP00000490815.1:n.3051G>A
ENST00000637891.1:c.905G>A	ENSP00000490907.1:p.Ser302Asn
ENST00000460843.5:c.3011G>A	ENSP00000417980.1:p.Ser1004Asn
ENST00000462942.3:c.1868G>A	ENSP00000436107.1:p.Ser623Asn
ENST00000486164.5:c.698G>A
ENST00000488242.2:n.537G>A
NM_024757.4:c.3011G>A	NP_079033.4:p.Ser1004Asn
XM_005266105.3:c.3002G>A	XP_005266162.1:p.Ser1001Asn
XM_005266110.1:c.2918G>A	XP_005266167.1:p.Ser973Asn
XM_006717288.2:c.2993G>A	XP_006717351.1:p.Ser998Asn
XM_011519021.1:c.3020G>A	XP_011517323.1:p.Ser1007Asn
XM_011519022.1:c.3017G>A	XP_011517324.1:p.Ser1006Asn
XM_011519023.1:c.2999G>A	XP_011517325.1:p.Ser1000Asn
XM_011519024.1:c.2942G>A	XP_011517326.1:p.Ser981Asn
XM_011519025.1:c.2918G>A	XP_011517327.1:p.Ser973Asn
XM_011519026.1:c.2876G>A	XP_011517328.1:p.Ser959Asn
XM_011519029.1:c.1442G>A	XP_011517331.1:p.Ser481Asn
XM_011519030.1:c.794G>A	XP_011517332.1:p.Ser265Asn
XM_011519031.1:c.581G>A	XP_011517333.1:p.Ser194Asn
XM_011519032.1:c.581G>A	XP_011517334.1:p.Ser194Asn
XM_011519033.1:c.2855G>A	XP_011517335.1:p.Ser952Asn
NM_001354263.1:c.2990G>A	NP_001341192.1:p.Ser997Asn
XM_005266105.5:c.3002G>A	XP_005266162.1:p.Ser1001Asn
XM_011519021.3:c.3020G>A	XP_011517323.1:p.Ser1007Asn
XM_011519022.3:c.3017G>A	XP_011517324.1:p.Ser1006Asn
XM_011519023.3:c.2999G>A	XP_011517325.1:p.Ser1000Asn
XM_011519029.3:c.1442G>A	XP_011517331.1:p.Ser481Asn
XM_011519030.3:c.794G>A	XP_011517332.1:p.Ser265Asn
XM_017015134.1:c.2996G>A	XP_016870623.1:p.Ser999Asn
XM_017015136.2:c.2912G>A	XP_016870625.1:p.Ser971Asn
XM_017015137.1:c.2897G>A	XP_016870626.1:p.Ser966Asn
XM_017015138.1:c.2897G>A	XP_016870627.1:p.Ser966Asn
XM_024447674.1:c.2840G>A	XP_024303442.1:p.Ser947Asn
XM_024447675.1:c.2774G>A	XP_024303443.1:p.Ser925Asn
XM_024447676.1:c.2135G>A	XP_024303444.1:p.Ser712Asn
XM_024447677.1:c.2135G>A	XP_024303445.1:p.Ser712Asn
XM_024447680.1:c.2753G>A	XP_024303448.1:p.Ser918Asn
NM_024757.5:c.3011G>A MANE Select	NP_079033.4:p.Ser1004Asn
NM_001354263.2:c.2990G>A	NP_001341192.1:p.Ser997Asn