Canonical Allele Identifier: CA375793684

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813143-G-C
• MyVariant Identifiers: chr9:g.140707595G>C (hg19) ; chr9:g.137813143G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813143G>C , CM000671.2:g.137813143G>C	GRCh38
NC_000009.11:g.140707595G>C , CM000671.1:g.140707595G>C	GRCh37
NC_000009.10:g.139827416G>C	NCBI36
NG_011776.1:g.199152G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3005G>C MANE Select	ENSP00000417980.1:p.Arg1002Thr
ENST00000636027.1:c.2891G>C	ENSP00000489961.1:p.Arg964Thr
ENST00000637161.1:c.2912G>C	ENSP00000490328.1:p.Arg971Thr
ENST00000637261.1:c.3045G>C	ENSP00000490815.1:n.3045G>C
ENST00000637891.1:c.899G>C	ENSP00000490907.1:p.Arg300Thr
ENST00000460843.5:c.3005G>C	ENSP00000417980.1:p.Arg1002Thr
ENST00000462942.3:c.1862G>C	ENSP00000436107.1:p.Arg621Thr
ENST00000486164.5:c.692G>C
ENST00000488242.2:n.531G>C
NM_024757.4:c.3005G>C	NP_079033.4:p.Arg1002Thr
XM_005266105.3:c.2996G>C	XP_005266162.1:p.Arg999Thr
XM_005266110.1:c.2912G>C	XP_005266167.1:p.Arg971Thr
XM_006717288.2:c.2987G>C	XP_006717351.1:p.Arg996Thr
XM_011519021.1:c.3014G>C	XP_011517323.1:p.Arg1005Thr
XM_011519022.1:c.3011G>C	XP_011517324.1:p.Arg1004Thr
XM_011519023.1:c.2993G>C	XP_011517325.1:p.Arg998Thr
XM_011519024.1:c.2936G>C	XP_011517326.1:p.Arg979Thr
XM_011519025.1:c.2912G>C	XP_011517327.1:p.Arg971Thr
XM_011519026.1:c.2870G>C	XP_011517328.1:p.Arg957Thr
XM_011519029.1:c.1436G>C	XP_011517331.1:p.Arg479Thr
XM_011519030.1:c.788G>C	XP_011517332.1:p.Arg263Thr
XM_011519031.1:c.575G>C	XP_011517333.1:p.Arg192Thr
XM_011519032.1:c.575G>C	XP_011517334.1:p.Arg192Thr
XM_011519033.1:c.2849G>C	XP_011517335.1:p.Arg950Thr
NM_001354263.1:c.2984G>C	NP_001341192.1:p.Arg995Thr
XM_005266105.5:c.2996G>C	XP_005266162.1:p.Arg999Thr
XM_011519021.3:c.3014G>C	XP_011517323.1:p.Arg1005Thr
XM_011519022.3:c.3011G>C	XP_011517324.1:p.Arg1004Thr
XM_011519023.3:c.2993G>C	XP_011517325.1:p.Arg998Thr
XM_011519029.3:c.1436G>C	XP_011517331.1:p.Arg479Thr
XM_011519030.3:c.788G>C	XP_011517332.1:p.Arg263Thr
XM_017015134.1:c.2990G>C	XP_016870623.1:p.Arg997Thr
XM_017015136.2:c.2906G>C	XP_016870625.1:p.Arg969Thr
XM_017015137.1:c.2891G>C	XP_016870626.1:p.Arg964Thr
XM_017015138.1:c.2891G>C	XP_016870627.1:p.Arg964Thr
XM_024447674.1:c.2834G>C	XP_024303442.1:p.Arg945Thr
XM_024447675.1:c.2768G>C	XP_024303443.1:p.Arg923Thr
XM_024447676.1:c.2129G>C	XP_024303444.1:p.Arg710Thr
XM_024447677.1:c.2129G>C	XP_024303445.1:p.Arg710Thr
XM_024447680.1:c.2747G>C	XP_024303448.1:p.Arg916Thr
NM_024757.5:c.3005G>C MANE Select	NP_079033.4:p.Arg1002Thr
NM_001354263.2:c.2984G>C	NP_001341192.1:p.Arg995Thr