Canonical Allele Identifier: CA5375123

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 289522
• ClinVar RCV Id: RCV000329176
• dbSNP Id: rs771261883
• ExAC: 9:140707587 C / G
• gnomAD v2: 9-140707587-C-G
• gnomAD v3: 9-137813135-C-G
• gnomAD v4: 9-137813135-C-G
• MyVariant Identifiers: chr9:g.140707587C>G (hg19) ; chr9:g.137813135C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813135C>G , CM000671.2:g.137813135C>G	GRCh38
NC_000009.11:g.140707587C>G , CM000671.1:g.140707587C>G	GRCh37
NC_000009.10:g.139827408C>G	NCBI36
NG_011776.1:g.199144C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2997C>G MANE Select	ENSP00000417980.1:p.Ala999=
ENST00000636027.1:c.2883C>G	ENSP00000489961.1:p.Ala961=
ENST00000637161.1:c.2904C>G	ENSP00000490328.1:p.Ala968=
ENST00000637261.1:c.3037C>G	ENSP00000490815.1:n.3037C>G
ENST00000637891.1:c.891C>G	ENSP00000490907.1:p.Ala297=
ENST00000460843.5:c.2997C>G	ENSP00000417980.1:p.Ala999=
ENST00000462942.3:c.1854C>G	ENSP00000436107.1:p.Ala618=
ENST00000486164.5:c.684C>G
ENST00000488242.2:n.523C>G
NM_024757.4:c.2997C>G	NP_079033.4:p.Ala999=
XM_005266105.3:c.2988C>G	XP_005266162.1:p.Ala996=
XM_005266110.1:c.2904C>G	XP_005266167.1:p.Ala968=
XM_006717288.2:c.2979C>G	XP_006717351.1:p.Ala993=
XM_011519021.1:c.3006C>G	XP_011517323.1:p.Ala1002=
XM_011519022.1:c.3003C>G	XP_011517324.1:p.Ala1001=
XM_011519023.1:c.2985C>G	XP_011517325.1:p.Ala995=
XM_011519024.1:c.2928C>G	XP_011517326.1:p.Ala976=
XM_011519025.1:c.2904C>G	XP_011517327.1:p.Ala968=
XM_011519026.1:c.2862C>G	XP_011517328.1:p.Ala954=
XM_011519029.1:c.1428C>G	XP_011517331.1:p.Ala476=
XM_011519030.1:c.780C>G	XP_011517332.1:p.Ala260=
XM_011519031.1:c.567C>G	XP_011517333.1:p.Ala189=
XM_011519032.1:c.567C>G	XP_011517334.1:p.Ala189=
XM_011519033.1:c.2841C>G	XP_011517335.1:p.Ala947=
NM_001354263.1:c.2976C>G	NP_001341192.1:p.Ala992=
XM_005266105.5:c.2988C>G	XP_005266162.1:p.Ala996=
XM_011519021.3:c.3006C>G	XP_011517323.1:p.Ala1002=
XM_011519022.3:c.3003C>G	XP_011517324.1:p.Ala1001=
XM_011519023.3:c.2985C>G	XP_011517325.1:p.Ala995=
XM_011519029.3:c.1428C>G	XP_011517331.1:p.Ala476=
XM_011519030.3:c.780C>G	XP_011517332.1:p.Ala260=
XM_017015134.1:c.2982C>G	XP_016870623.1:p.Ala994=
XM_017015136.2:c.2898C>G	XP_016870625.1:p.Ala966=
XM_017015137.1:c.2883C>G	XP_016870626.1:p.Ala961=
XM_017015138.1:c.2883C>G	XP_016870627.1:p.Ala961=
XM_024447674.1:c.2826C>G	XP_024303442.1:p.Ala942=
XM_024447675.1:c.2760C>G	XP_024303443.1:p.Ala920=
XM_024447676.1:c.2121C>G	XP_024303444.1:p.Ala707=
XM_024447677.1:c.2121C>G	XP_024303445.1:p.Ala707=
XM_024447680.1:c.2739C>G	XP_024303448.1:p.Ala913=
NM_024757.5:c.2997C>G MANE Select	NP_079033.4:p.Ala999=
NM_001354263.2:c.2976C>G	NP_001341192.1:p.Ala992=