Canonical Allele Identifier: CA5375118

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 963096
• ClinVar RCV Id: RCV001237070 ; RCV003883584
• dbSNP Id: rs755184801
• ExAC: 9:140707563 G / A
• gnomAD v2: 9-140707563-G-A
• gnomAD v3: 9-137813111-G-A
• gnomAD v4: 9-137813111-G-A
• MyVariant Identifiers: chr9:g.140707563G>A (hg19) ; chr9:g.137813111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813111G>A , CM000671.2:g.137813111G>A	GRCh38
NC_000009.11:g.140707563G>A , CM000671.1:g.140707563G>A	GRCh37
NC_000009.10:g.139827384G>A	NCBI36
NG_011776.1:g.199120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2973G>A MANE Select	ENSP00000417980.1:p.Met991Ile
ENST00000636027.1:c.2859G>A	ENSP00000489961.1:p.Met953Ile
ENST00000637161.1:c.2880G>A	ENSP00000490328.1:p.Met960Ile
ENST00000637261.1:c.3013G>A	ENSP00000490815.1:n.3013G>A
ENST00000637891.1:c.867G>A	ENSP00000490907.1:p.Met289Ile
ENST00000460843.5:c.2973G>A	ENSP00000417980.1:p.Met991Ile
ENST00000462942.3:c.1830G>A	ENSP00000436107.1:p.Met610Ile
ENST00000486164.5:c.660G>A
ENST00000488242.2:n.499G>A
NM_024757.4:c.2973G>A	NP_079033.4:p.Met991Ile
XM_005266105.3:c.2964G>A	XP_005266162.1:p.Met988Ile
XM_005266110.1:c.2880G>A	XP_005266167.1:p.Met960Ile
XM_006717288.2:c.2955G>A	XP_006717351.1:p.Met985Ile
XM_011519021.1:c.2982G>A	XP_011517323.1:p.Met994Ile
XM_011519022.1:c.2979G>A	XP_011517324.1:p.Met993Ile
XM_011519023.1:c.2961G>A	XP_011517325.1:p.Met987Ile
XM_011519024.1:c.2904G>A	XP_011517326.1:p.Met968Ile
XM_011519025.1:c.2880G>A	XP_011517327.1:p.Met960Ile
XM_011519026.1:c.2838G>A	XP_011517328.1:p.Met946Ile
XM_011519029.1:c.1404G>A	XP_011517331.1:p.Met468Ile
XM_011519030.1:c.756G>A	XP_011517332.1:p.Met252Ile
XM_011519031.1:c.543G>A	XP_011517333.1:p.Met181Ile
XM_011519032.1:c.543G>A	XP_011517334.1:p.Met181Ile
XM_011519033.1:c.2817G>A	XP_011517335.1:p.Met939Ile
NM_001354263.1:c.2952G>A	NP_001341192.1:p.Met984Ile
XM_005266105.5:c.2964G>A	XP_005266162.1:p.Met988Ile
XM_011519021.3:c.2982G>A	XP_011517323.1:p.Met994Ile
XM_011519022.3:c.2979G>A	XP_011517324.1:p.Met993Ile
XM_011519023.3:c.2961G>A	XP_011517325.1:p.Met987Ile
XM_011519029.3:c.1404G>A	XP_011517331.1:p.Met468Ile
XM_011519030.3:c.756G>A	XP_011517332.1:p.Met252Ile
XM_017015134.1:c.2958G>A	XP_016870623.1:p.Met986Ile
XM_017015136.2:c.2874G>A	XP_016870625.1:p.Met958Ile
XM_017015137.1:c.2859G>A	XP_016870626.1:p.Met953Ile
XM_017015138.1:c.2859G>A	XP_016870627.1:p.Met953Ile
XM_024447674.1:c.2802G>A	XP_024303442.1:p.Met934Ile
XM_024447675.1:c.2736G>A	XP_024303443.1:p.Met912Ile
XM_024447676.1:c.2097G>A	XP_024303444.1:p.Met699Ile
XM_024447677.1:c.2097G>A	XP_024303445.1:p.Met699Ile
XM_024447680.1:c.2715G>A	XP_024303448.1:p.Met905Ile
NM_024757.5:c.2973G>A MANE Select	NP_079033.4:p.Met991Ile
NM_001354263.2:c.2952G>A	NP_001341192.1:p.Met984Ile