Canonical Allele Identifier: CA468161016

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1551538
• ClinVar RCV Id: RCV002192409
• dbSNP Id: rs1200280724
• gnomAD v2: 9-140707461-C-G
• gnomAD v3: 9-137813009-C-G
• gnomAD v4: 9-137813009-C-G
• MyVariant Identifiers: chr9:g.140707461C>G (hg19) ; chr9:g.137813009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813009C>G , CM000671.2:g.137813009C>G	GRCh38
NC_000009.11:g.140707461C>G , CM000671.1:g.140707461C>G	GRCh37
NC_000009.10:g.139827282C>G	NCBI36
NG_011776.1:g.199018C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2871C>G MANE Select	ENSP00000417980.1:p.Leu957=
ENST00000636027.1:c.2757C>G	ENSP00000489961.1:p.Leu919=
ENST00000637161.1:c.2778C>G	ENSP00000490328.1:p.Leu926=
ENST00000637261.1:c.2911C>G	ENSP00000490815.1:n.2911C>G
ENST00000637891.1:c.765C>G	ENSP00000490907.1:p.Leu255=
ENST00000460843.5:c.2871C>G	ENSP00000417980.1:p.Leu957=
ENST00000462942.3:c.1728C>G	ENSP00000436107.1:p.Leu576=
ENST00000486164.5:c.558C>G
ENST00000488242.2:n.397C>G
NM_024757.4:c.2871C>G	NP_079033.4:p.Leu957=
XM_005266105.3:c.2862C>G	XP_005266162.1:p.Leu954=
XM_005266110.1:c.2778C>G	XP_005266167.1:p.Leu926=
XM_006717288.2:c.2853C>G	XP_006717351.1:p.Leu951=
XM_011519021.1:c.2880C>G	XP_011517323.1:p.Leu960=
XM_011519022.1:c.2877C>G	XP_011517324.1:p.Leu959=
XM_011519023.1:c.2859C>G	XP_011517325.1:p.Leu953=
XM_011519024.1:c.2802C>G	XP_011517326.1:p.Leu934=
XM_011519025.1:c.2778C>G	XP_011517327.1:p.Leu926=
XM_011519026.1:c.2736C>G	XP_011517328.1:p.Leu912=
XM_011519029.1:c.1302C>G	XP_011517331.1:p.Leu434=
XM_011519030.1:c.654C>G	XP_011517332.1:p.Leu218=
XM_011519031.1:c.441C>G	XP_011517333.1:p.Leu147=
XM_011519032.1:c.441C>G	XP_011517334.1:p.Leu147=
XM_011519033.1:c.2715C>G	XP_011517335.1:p.Leu905=
NM_001354263.1:c.2850C>G	NP_001341192.1:p.Leu950=
XM_005266105.5:c.2862C>G	XP_005266162.1:p.Leu954=
XM_011519021.3:c.2880C>G	XP_011517323.1:p.Leu960=
XM_011519022.3:c.2877C>G	XP_011517324.1:p.Leu959=
XM_011519023.3:c.2859C>G	XP_011517325.1:p.Leu953=
XM_011519029.3:c.1302C>G	XP_011517331.1:p.Leu434=
XM_011519030.3:c.654C>G	XP_011517332.1:p.Leu218=
XM_017015134.1:c.2856C>G	XP_016870623.1:p.Leu952=
XM_017015136.2:c.2772C>G	XP_016870625.1:p.Leu924=
XM_017015137.1:c.2757C>G	XP_016870626.1:p.Leu919=
XM_017015138.1:c.2757C>G	XP_016870627.1:p.Leu919=
XM_024447674.1:c.2700C>G	XP_024303442.1:p.Leu900=
XM_024447675.1:c.2634C>G	XP_024303443.1:p.Leu878=
XM_024447676.1:c.1995C>G	XP_024303444.1:p.Leu665=
XM_024447677.1:c.1995C>G	XP_024303445.1:p.Leu665=
XM_024447680.1:c.2613C>G	XP_024303448.1:p.Leu871=
NM_024757.5:c.2871C>G MANE Select	NP_079033.4:p.Leu957=
NM_001354263.2:c.2850C>G	NP_001341192.1:p.Leu950=