Canonical Allele Identifier: CA375793650

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707578G>T (hg19) ; chr9:g.137813126G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813126G>T , CM000671.2:g.137813126G>T	GRCh38
NC_000009.11:g.140707578G>T , CM000671.1:g.140707578G>T	GRCh37
NC_000009.10:g.139827399G>T	NCBI36
NG_011776.1:g.199135G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2988G>T MANE Select	ENSP00000417980.1:p.Gln996His
ENST00000636027.1:c.2874G>T	ENSP00000489961.1:p.Gln958His
ENST00000637161.1:c.2895G>T	ENSP00000490328.1:p.Gln965His
ENST00000637261.1:c.3028G>T	ENSP00000490815.1:n.3028G>T
ENST00000637891.1:c.882G>T	ENSP00000490907.1:p.Gln294His
ENST00000460843.5:c.2988G>T	ENSP00000417980.1:p.Gln996His
ENST00000462942.3:c.1845G>T	ENSP00000436107.1:p.Gln615His
ENST00000486164.5:c.675G>T
ENST00000488242.2:n.514G>T
NM_024757.4:c.2988G>T	NP_079033.4:p.Gln996His
XM_005266105.3:c.2979G>T	XP_005266162.1:p.Gln993His
XM_005266110.1:c.2895G>T	XP_005266167.1:p.Gln965His
XM_006717288.2:c.2970G>T	XP_006717351.1:p.Gln990His
XM_011519021.1:c.2997G>T	XP_011517323.1:p.Gln999His
XM_011519022.1:c.2994G>T	XP_011517324.1:p.Gln998His
XM_011519023.1:c.2976G>T	XP_011517325.1:p.Gln992His
XM_011519024.1:c.2919G>T	XP_011517326.1:p.Gln973His
XM_011519025.1:c.2895G>T	XP_011517327.1:p.Gln965His
XM_011519026.1:c.2853G>T	XP_011517328.1:p.Gln951His
XM_011519029.1:c.1419G>T	XP_011517331.1:p.Gln473His
XM_011519030.1:c.771G>T	XP_011517332.1:p.Gln257His
XM_011519031.1:c.558G>T	XP_011517333.1:p.Gln186His
XM_011519032.1:c.558G>T	XP_011517334.1:p.Gln186His
XM_011519033.1:c.2832G>T	XP_011517335.1:p.Gln944His
NM_001354263.1:c.2967G>T	NP_001341192.1:p.Gln989His
XM_005266105.5:c.2979G>T	XP_005266162.1:p.Gln993His
XM_011519021.3:c.2997G>T	XP_011517323.1:p.Gln999His
XM_011519022.3:c.2994G>T	XP_011517324.1:p.Gln998His
XM_011519023.3:c.2976G>T	XP_011517325.1:p.Gln992His
XM_011519029.3:c.1419G>T	XP_011517331.1:p.Gln473His
XM_011519030.3:c.771G>T	XP_011517332.1:p.Gln257His
XM_017015134.1:c.2973G>T	XP_016870623.1:p.Gln991His
XM_017015136.2:c.2889G>T	XP_016870625.1:p.Gln963His
XM_017015137.1:c.2874G>T	XP_016870626.1:p.Gln958His
XM_017015138.1:c.2874G>T	XP_016870627.1:p.Gln958His
XM_024447674.1:c.2817G>T	XP_024303442.1:p.Gln939His
XM_024447675.1:c.2751G>T	XP_024303443.1:p.Gln917His
XM_024447676.1:c.2112G>T	XP_024303444.1:p.Gln704His
XM_024447677.1:c.2112G>T	XP_024303445.1:p.Gln704His
XM_024447680.1:c.2730G>T	XP_024303448.1:p.Gln910His
NM_024757.5:c.2988G>T MANE Select	NP_079033.4:p.Gln996His
NM_001354263.2:c.2967G>T	NP_001341192.1:p.Gln989His