Canonical Allele Identifier: CA375788988

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1038746
• ClinVar RCV Id: RCV001342093 ; RCV002456484
• dbSNP Id: rs1953427756
• gnomAD v4: 9-137800959-G-A
• MyVariant Identifiers: chr9:g.140695411G>A (hg19) ; chr9:g.137800959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800959G>A , CM000671.2:g.137800959G>A	GRCh38
NC_000009.11:g.140695411G>A , CM000671.1:g.140695411G>A	GRCh37
NC_000009.10:g.139815232G>A	NCBI36
NG_011776.1:g.186968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2687G>A MANE Select	ENSP00000417980.1:p.Gly896Asp
ENST00000636027.1:c.2573G>A	ENSP00000489961.1:p.Gly858Asp
ENST00000637161.1:c.2594G>A	ENSP00000490328.1:p.Gly865Asp
ENST00000637261.1:c.2727G>A	ENSP00000490815.1:n.2727G>A
ENST00000637891.1:c.581G>A	ENSP00000490907.1:p.Gly194Asp
ENST00000637949.1:c.365G>A	ENSP00000489786.1:p.Gly122Asp
ENST00000460843.5:c.2687G>A	ENSP00000417980.1:p.Gly896Asp
ENST00000462942.3:c.1544G>A	ENSP00000436107.1:p.Gly515Asp
ENST00000482340.5:c.257G>A	ENSP00000486748.1:p.Gly86Asp
ENST00000486164.5:c.265G>A
ENST00000488242.2:n.213G>A
ENST00000493484.5:c.257G>A	ENSP00000486503.1:p.Gly86Asp
NM_024757.4:c.2687G>A	NP_079033.4:p.Gly896Asp
XM_005266105.3:c.2678G>A	XP_005266162.1:p.Gly893Asp
XM_005266110.1:c.2594G>A	XP_005266167.1:p.Gly865Asp
XM_006717288.2:c.2669G>A	XP_006717351.1:p.Gly890Asp
XM_011519021.1:c.2696G>A	XP_011517323.1:p.Gly899Asp
XM_011519022.1:c.2693G>A	XP_011517324.1:p.Gly898Asp
XM_011519023.1:c.2675G>A	XP_011517325.1:p.Gly892Asp
XM_011519024.1:c.2618G>A	XP_011517326.1:p.Gly873Asp
XM_011519025.1:c.2594G>A	XP_011517327.1:p.Gly865Asp
XM_011519026.1:c.2552G>A	XP_011517328.1:p.Gly851Asp
XM_011519027.1:c.2696G>A	XP_011517329.1:p.Gly899Asp
XM_011519029.1:c.1118G>A	XP_011517331.1:p.Gly373Asp
XM_011519030.1:c.470G>A	XP_011517332.1:p.Gly157Asp
XM_011519031.1:c.257G>A	XP_011517333.1:p.Gly86Asp
XM_011519032.1:c.257G>A	XP_011517334.1:p.Gly86Asp
XM_011519033.1:c.2531G>A	XP_011517335.1:p.Gly844Asp
NM_001354263.1:c.2666G>A	NP_001341192.1:p.Gly889Asp
XM_005266105.5:c.2678G>A	XP_005266162.1:p.Gly893Asp
XM_011519021.3:c.2696G>A	XP_011517323.1:p.Gly899Asp
XM_011519022.3:c.2693G>A	XP_011517324.1:p.Gly898Asp
XM_011519023.3:c.2675G>A	XP_011517325.1:p.Gly892Asp
XM_011519029.3:c.1118G>A	XP_011517331.1:p.Gly373Asp
XM_011519030.3:c.470G>A	XP_011517332.1:p.Gly157Asp
XM_017015134.1:c.2672G>A	XP_016870623.1:p.Gly891Asp
XM_017015136.2:c.2588G>A	XP_016870625.1:p.Gly863Asp
XM_017015137.1:c.2573G>A	XP_016870626.1:p.Gly858Asp
XM_017015138.1:c.2573G>A	XP_016870627.1:p.Gly858Asp
XM_024447674.1:c.2516G>A	XP_024303442.1:p.Gly839Asp
XM_024447675.1:c.2450G>A	XP_024303443.1:p.Gly817Asp
XM_024447676.1:c.1811G>A	XP_024303444.1:p.Gly604Asp
XM_024447677.1:c.1811G>A	XP_024303445.1:p.Gly604Asp
XM_024447678.1:c.2594G>A	XP_024303446.1:p.Gly865Asp
XM_024447680.1:c.2429G>A	XP_024303448.1:p.Gly810Asp
NM_024757.5:c.2687G>A MANE Select	NP_079033.4:p.Gly896Asp
NM_001354263.2:c.2666G>A	NP_001341192.1:p.Gly889Asp