Canonical Allele Identifier: CA467877661

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1398442
• ClinVar RCV Id: RCV001915059
• dbSNP Id: rs1953427318
• gnomAD v3: 9-137800957-G-A
• gnomAD v4: 9-137800957-G-A
• MyVariant Identifiers: chr9:g.140695409G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800957G>A , CM000671.2:g.137800957G>A	GRCh38
NC_000009.11:g.140695409G>A , CM000671.1:g.140695409G>A	GRCh37
NC_000009.10:g.139815230G>A	NCBI36
NG_011776.1:g.186966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2685G>A MANE Select	ENSP00000417980.1:p.Lys895=
ENST00000636027.1:c.2571G>A	ENSP00000489961.1:p.Lys857=
ENST00000637161.1:c.2592G>A	ENSP00000490328.1:p.Lys864=
ENST00000637261.1:c.2725G>A	ENSP00000490815.1:n.2725G>A
ENST00000637891.1:c.579G>A	ENSP00000490907.1:p.Lys193=
ENST00000637949.1:c.363G>A	ENSP00000489786.1:p.Lys121=
ENST00000460843.5:c.2685G>A	ENSP00000417980.1:p.Lys895=
ENST00000462942.3:c.1542G>A	ENSP00000436107.1:p.Lys514=
ENST00000482340.5:c.255G>A	ENSP00000486748.1:p.Lys85=
ENST00000486164.5:c.263G>A
ENST00000488242.2:n.211G>A
ENST00000493484.5:c.255G>A	ENSP00000486503.1:p.Lys85=
NM_024757.4:c.2685G>A	NP_079033.4:p.Lys895=
XM_005266105.3:c.2676G>A	XP_005266162.1:p.Lys892=
XM_005266110.1:c.2592G>A	XP_005266167.1:p.Lys864=
XM_006717288.2:c.2667G>A	XP_006717351.1:p.Lys889=
XM_011519021.1:c.2694G>A	XP_011517323.1:p.Lys898=
XM_011519022.1:c.2691G>A	XP_011517324.1:p.Lys897=
XM_011519023.1:c.2673G>A	XP_011517325.1:p.Lys891=
XM_011519024.1:c.2616G>A	XP_011517326.1:p.Lys872=
XM_011519025.1:c.2592G>A	XP_011517327.1:p.Lys864=
XM_011519026.1:c.2550G>A	XP_011517328.1:p.Lys850=
XM_011519027.1:c.2694G>A	XP_011517329.1:p.Lys898=
XM_011519029.1:c.1116G>A	XP_011517331.1:p.Lys372=
XM_011519030.1:c.468G>A	XP_011517332.1:p.Lys156=
XM_011519031.1:c.255G>A	XP_011517333.1:p.Lys85=
XM_011519032.1:c.255G>A	XP_011517334.1:p.Lys85=
XM_011519033.1:c.2529G>A	XP_011517335.1:p.Lys843=
NM_001354263.1:c.2664G>A	NP_001341192.1:p.Lys888=
XM_005266105.5:c.2676G>A	XP_005266162.1:p.Lys892=
XM_011519021.3:c.2694G>A	XP_011517323.1:p.Lys898=
XM_011519022.3:c.2691G>A	XP_011517324.1:p.Lys897=
XM_011519023.3:c.2673G>A	XP_011517325.1:p.Lys891=
XM_011519029.3:c.1116G>A	XP_011517331.1:p.Lys372=
XM_011519030.3:c.468G>A	XP_011517332.1:p.Lys156=
XM_017015134.1:c.2670G>A	XP_016870623.1:p.Lys890=
XM_017015136.2:c.2586G>A	XP_016870625.1:p.Lys862=
XM_017015137.1:c.2571G>A	XP_016870626.1:p.Lys857=
XM_017015138.1:c.2571G>A	XP_016870627.1:p.Lys857=
XM_024447674.1:c.2514G>A	XP_024303442.1:p.Lys838=
XM_024447675.1:c.2448G>A	XP_024303443.1:p.Lys816=
XM_024447676.1:c.1809G>A	XP_024303444.1:p.Lys603=
XM_024447677.1:c.1809G>A	XP_024303445.1:p.Lys603=
XM_024447678.1:c.2592G>A	XP_024303446.1:p.Lys864=
XM_024447680.1:c.2427G>A	XP_024303448.1:p.Lys809=
NM_024757.5:c.2685G>A MANE Select	NP_079033.4:p.Lys895=
NM_001354263.2:c.2664G>A	NP_001341192.1:p.Lys888=