Canonical Allele Identifier: CA223772

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 96150
• ClinVar RCV Id: RCV000082226 ; RCV001081690
• dbSNP Id: rs377070695
• ExAC: 9:140695429 G / A
• gnomAD v2: 9-140695429-G-A
• gnomAD v3: 9-137800977-G-A
• gnomAD v4: 9-137800977-G-A
• MyVariant Identifiers: chr9:g.140695429G>A (hg19) ; chr9:g.137800977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800977G>A , CM000671.2:g.137800977G>A	GRCh38
NC_000009.11:g.140695429G>A , CM000671.1:g.140695429G>A	GRCh37
NC_000009.10:g.139815250G>A	NCBI36
NG_011776.1:g.186986G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2705G>A MANE Select	ENSP00000417980.1:p.Arg902Gln
ENST00000636027.1:c.2591G>A	ENSP00000489961.1:p.Arg864Gln
ENST00000637161.1:c.2612G>A	ENSP00000490328.1:p.Arg871Gln
ENST00000637261.1:c.2745G>A	ENSP00000490815.1:n.2745G>A
ENST00000637891.1:c.599G>A	ENSP00000490907.1:p.Arg200Gln
ENST00000637949.1:c.383G>A	ENSP00000489786.1:p.Arg128Gln
ENST00000460843.5:c.2705G>A	ENSP00000417980.1:p.Arg902Gln
ENST00000462942.3:c.1562G>A	ENSP00000436107.1:p.Arg521Gln
ENST00000482340.5:c.275G>A	ENSP00000486748.1:p.Arg92Gln
ENST00000486164.5:c.283G>A
ENST00000488242.2:n.231G>A
ENST00000493484.5:c.275G>A	ENSP00000486503.1:p.Arg92Gln
NM_024757.4:c.2705G>A	NP_079033.4:p.Arg902Gln
XM_005266105.3:c.2696G>A	XP_005266162.1:p.Arg899Gln
XM_005266110.1:c.2612G>A	XP_005266167.1:p.Arg871Gln
XM_006717288.2:c.2687G>A	XP_006717351.1:p.Arg896Gln
XM_011519021.1:c.2714G>A	XP_011517323.1:p.Arg905Gln
XM_011519022.1:c.2711G>A	XP_011517324.1:p.Arg904Gln
XM_011519023.1:c.2693G>A	XP_011517325.1:p.Arg898Gln
XM_011519024.1:c.2636G>A	XP_011517326.1:p.Arg879Gln
XM_011519025.1:c.2612G>A	XP_011517327.1:p.Arg871Gln
XM_011519026.1:c.2570G>A	XP_011517328.1:p.Arg857Gln
XM_011519027.1:c.2714G>A	XP_011517329.1:p.Arg905Gln
XM_011519029.1:c.1136G>A	XP_011517331.1:p.Arg379Gln
XM_011519030.1:c.488G>A	XP_011517332.1:p.Arg163Gln
XM_011519031.1:c.275G>A	XP_011517333.1:p.Arg92Gln
XM_011519032.1:c.275G>A	XP_011517334.1:p.Arg92Gln
XM_011519033.1:c.2549G>A	XP_011517335.1:p.Arg850Gln
NM_001354263.1:c.2684G>A	NP_001341192.1:p.Arg895Gln
XM_005266105.5:c.2696G>A	XP_005266162.1:p.Arg899Gln
XM_011519021.3:c.2714G>A	XP_011517323.1:p.Arg905Gln
XM_011519022.3:c.2711G>A	XP_011517324.1:p.Arg904Gln
XM_011519023.3:c.2693G>A	XP_011517325.1:p.Arg898Gln
XM_011519029.3:c.1136G>A	XP_011517331.1:p.Arg379Gln
XM_011519030.3:c.488G>A	XP_011517332.1:p.Arg163Gln
XM_017015134.1:c.2690G>A	XP_016870623.1:p.Arg897Gln
XM_017015136.2:c.2606G>A	XP_016870625.1:p.Arg869Gln
XM_017015137.1:c.2591G>A	XP_016870626.1:p.Arg864Gln
XM_017015138.1:c.2591G>A	XP_016870627.1:p.Arg864Gln
XM_024447674.1:c.2534G>A	XP_024303442.1:p.Arg845Gln
XM_024447675.1:c.2468G>A	XP_024303443.1:p.Arg823Gln
XM_024447676.1:c.1829G>A	XP_024303444.1:p.Arg610Gln
XM_024447677.1:c.1829G>A	XP_024303445.1:p.Arg610Gln
XM_024447678.1:c.2612G>A	XP_024303446.1:p.Arg871Gln
XM_024447680.1:c.2447G>A	XP_024303448.1:p.Arg816Gln
NM_024757.5:c.2705G>A MANE Select	NP_079033.4:p.Arg902Gln
NM_001354263.2:c.2684G>A	NP_001341192.1:p.Arg895Gln