Canonical Allele Identifier: CA10603028

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 280682
• ClinVar RCV Id: RCV000336966 ; RCV001808728
• dbSNP Id: rs886041844
• gnomAD v4: 9-137800976-C-T
• MyVariant Identifiers: chr9:g.140695428C>T (hg19) ; chr9:g.137800976C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800976C>T , CM000671.2:g.137800976C>T	GRCh38
NC_000009.11:g.140695428C>T , CM000671.1:g.140695428C>T	GRCh37
NC_000009.10:g.139815249C>T	NCBI36
NG_011776.1:g.186985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2704C>T MANE Select	ENSP00000417980.1:p.Arg902Ter
ENST00000636027.1:c.2590C>T	ENSP00000489961.1:p.Arg864Ter
ENST00000637161.1:c.2611C>T	ENSP00000490328.1:p.Arg871Ter
ENST00000637261.1:c.2744C>T	ENSP00000490815.1:n.2744C>T
ENST00000637891.1:c.598C>T	ENSP00000490907.1:p.Arg200Ter
ENST00000637949.1:c.382C>T	ENSP00000489786.1:p.Arg128Ter
ENST00000460843.5:c.2704C>T	ENSP00000417980.1:p.Arg902Ter
ENST00000462942.3:c.1561C>T	ENSP00000436107.1:p.Arg521Ter
ENST00000482340.5:c.274C>T	ENSP00000486748.1:p.Arg92Ter
ENST00000486164.5:c.282C>T
ENST00000488242.2:n.230C>T
ENST00000493484.5:c.274C>T	ENSP00000486503.1:p.Arg92Ter
NM_024757.4:c.2704C>T	NP_079033.4:p.Arg902Ter
XM_005266105.3:c.2695C>T	XP_005266162.1:p.Arg899Ter
XM_005266110.1:c.2611C>T	XP_005266167.1:p.Arg871Ter
XM_006717288.2:c.2686C>T	XP_006717351.1:p.Arg896Ter
XM_011519021.1:c.2713C>T	XP_011517323.1:p.Arg905Ter
XM_011519022.1:c.2710C>T	XP_011517324.1:p.Arg904Ter
XM_011519023.1:c.2692C>T	XP_011517325.1:p.Arg898Ter
XM_011519024.1:c.2635C>T	XP_011517326.1:p.Arg879Ter
XM_011519025.1:c.2611C>T	XP_011517327.1:p.Arg871Ter
XM_011519026.1:c.2569C>T	XP_011517328.1:p.Arg857Ter
XM_011519027.1:c.2713C>T	XP_011517329.1:p.Arg905Ter
XM_011519029.1:c.1135C>T	XP_011517331.1:p.Arg379Ter
XM_011519030.1:c.487C>T	XP_011517332.1:p.Arg163Ter
XM_011519031.1:c.274C>T	XP_011517333.1:p.Arg92Ter
XM_011519032.1:c.274C>T	XP_011517334.1:p.Arg92Ter
XM_011519033.1:c.2548C>T	XP_011517335.1:p.Arg850Ter
NM_001354263.1:c.2683C>T	NP_001341192.1:p.Arg895Ter
XM_005266105.5:c.2695C>T	XP_005266162.1:p.Arg899Ter
XM_011519021.3:c.2713C>T	XP_011517323.1:p.Arg905Ter
XM_011519022.3:c.2710C>T	XP_011517324.1:p.Arg904Ter
XM_011519023.3:c.2692C>T	XP_011517325.1:p.Arg898Ter
XM_011519029.3:c.1135C>T	XP_011517331.1:p.Arg379Ter
XM_011519030.3:c.487C>T	XP_011517332.1:p.Arg163Ter
XM_017015134.1:c.2689C>T	XP_016870623.1:p.Arg897Ter
XM_017015136.2:c.2605C>T	XP_016870625.1:p.Arg869Ter
XM_017015137.1:c.2590C>T	XP_016870626.1:p.Arg864Ter
XM_017015138.1:c.2590C>T	XP_016870627.1:p.Arg864Ter
XM_024447674.1:c.2533C>T	XP_024303442.1:p.Arg845Ter
XM_024447675.1:c.2467C>T	XP_024303443.1:p.Arg823Ter
XM_024447676.1:c.1828C>T	XP_024303444.1:p.Arg610Ter
XM_024447677.1:c.1828C>T	XP_024303445.1:p.Arg610Ter
XM_024447678.1:c.2611C>T	XP_024303446.1:p.Arg871Ter
XM_024447680.1:c.2446C>T	XP_024303448.1:p.Arg816Ter
NM_024757.5:c.2704C>T MANE Select	NP_079033.4:p.Arg902Ter
NM_001354263.2:c.2683C>T	NP_001341192.1:p.Arg895Ter