Canonical Allele Identifier: CA5375016

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1937453
• ClinVar RCV Id: RCV002653278
• dbSNP Id: rs758110852
• ExAC: 9:140695343 C / T
• gnomAD v2: 9-140695343-C-T
• gnomAD v3: 9-137800891-C-T
• gnomAD v4: 9-137800891-C-T
• MyVariant Identifiers: chr9:g.140695343C>T (hg19) ; chr9:g.137800891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800891C>T , CM000671.2:g.137800891C>T	GRCh38
NC_000009.11:g.140695343C>T , CM000671.1:g.140695343C>T	GRCh37
NC_000009.10:g.139815164C>T	NCBI36
NG_011776.1:g.186900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2619C>T MANE Select	ENSP00000417980.1:p.Gly873=
ENST00000636027.1:c.2505C>T	ENSP00000489961.1:p.Gly835=
ENST00000637161.1:c.2526C>T	ENSP00000490328.1:p.Gly842=
ENST00000637261.1:c.2659C>T	ENSP00000490815.1:n.2659C>T
ENST00000637891.1:c.513C>T	ENSP00000490907.1:p.Gly171=
ENST00000637949.1:c.297C>T	ENSP00000489786.1:p.Gly99=
ENST00000460843.5:c.2619C>T	ENSP00000417980.1:p.Gly873=
ENST00000462942.3:c.1476C>T	ENSP00000436107.1:p.Gly492=
ENST00000482340.5:c.189C>T	ENSP00000486748.1:p.Gly63=
ENST00000486164.5:c.197C>T
ENST00000488242.2:n.145C>T
ENST00000493484.5:c.189C>T	ENSP00000486503.1:p.Gly63=
NM_024757.4:c.2619C>T	NP_079033.4:p.Gly873=
XM_005266105.3:c.2610C>T	XP_005266162.1:p.Gly870=
XM_005266110.1:c.2526C>T	XP_005266167.1:p.Gly842=
XM_006717288.2:c.2601C>T	XP_006717351.1:p.Gly867=
XM_011519021.1:c.2628C>T	XP_011517323.1:p.Gly876=
XM_011519022.1:c.2625C>T	XP_011517324.1:p.Gly875=
XM_011519023.1:c.2607C>T	XP_011517325.1:p.Gly869=
XM_011519024.1:c.2550C>T	XP_011517326.1:p.Gly850=
XM_011519025.1:c.2526C>T	XP_011517327.1:p.Gly842=
XM_011519026.1:c.2484C>T	XP_011517328.1:p.Gly828=
XM_011519027.1:c.2628C>T	XP_011517329.1:p.Gly876=
XM_011519029.1:c.1050C>T	XP_011517331.1:p.Gly350=
XM_011519030.1:c.402C>T	XP_011517332.1:p.Gly134=
XM_011519031.1:c.189C>T	XP_011517333.1:p.Gly63=
XM_011519032.1:c.189C>T	XP_011517334.1:p.Gly63=
XM_011519033.1:c.2463C>T	XP_011517335.1:p.Gly821=
NM_001354263.1:c.2598C>T	NP_001341192.1:p.Gly866=
XM_005266105.5:c.2610C>T	XP_005266162.1:p.Gly870=
XM_011519021.3:c.2628C>T	XP_011517323.1:p.Gly876=
XM_011519022.3:c.2625C>T	XP_011517324.1:p.Gly875=
XM_011519023.3:c.2607C>T	XP_011517325.1:p.Gly869=
XM_011519029.3:c.1050C>T	XP_011517331.1:p.Gly350=
XM_011519030.3:c.402C>T	XP_011517332.1:p.Gly134=
XM_017015134.1:c.2604C>T	XP_016870623.1:p.Gly868=
XM_017015136.2:c.2520C>T	XP_016870625.1:p.Gly840=
XM_017015137.1:c.2505C>T	XP_016870626.1:p.Gly835=
XM_017015138.1:c.2505C>T	XP_016870627.1:p.Gly835=
XM_024447674.1:c.2448C>T	XP_024303442.1:p.Gly816=
XM_024447675.1:c.2382C>T	XP_024303443.1:p.Gly794=
XM_024447676.1:c.1743C>T	XP_024303444.1:p.Gly581=
XM_024447677.1:c.1743C>T	XP_024303445.1:p.Gly581=
XM_024447678.1:c.2526C>T	XP_024303446.1:p.Gly842=
XM_024447680.1:c.2361C>T	XP_024303448.1:p.Gly787=
NM_024757.5:c.2619C>T MANE Select	NP_079033.4:p.Gly873=
NM_001354263.2:c.2598C>T	NP_001341192.1:p.Gly866=