Canonical Allele Identifier: CA10633344

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2166650
• ClinVar RCV Id: RCV003091869
• dbSNP Id: rs886063737
• gnomAD v3: 9-137813020-G-A
• gnomAD v4: 9-137813020-G-A
• MyVariant Identifiers: chr9:g.140707472G>A (hg19) ; chr9:g.137813020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813020G>A , CM000671.2:g.137813020G>A	GRCh38
NC_000009.11:g.140707472G>A , CM000671.1:g.140707472G>A	GRCh37
NC_000009.10:g.139827293G>A	NCBI36
NG_011776.1:g.199029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2882G>A MANE Select	ENSP00000417980.1:p.Arg961Gln
ENST00000636027.1:c.2768G>A	ENSP00000489961.1:p.Arg923Gln
ENST00000637161.1:c.2789G>A	ENSP00000490328.1:p.Arg930Gln
ENST00000637261.1:c.2922G>A	ENSP00000490815.1:n.2922G>A
ENST00000637891.1:c.776G>A	ENSP00000490907.1:p.Arg259Gln
ENST00000460843.5:c.2882G>A	ENSP00000417980.1:p.Arg961Gln
ENST00000462942.3:c.1739G>A	ENSP00000436107.1:p.Arg580Gln
ENST00000486164.5:c.569G>A
ENST00000488242.2:n.408G>A
NM_024757.4:c.2882G>A	NP_079033.4:p.Arg961Gln
XM_005266105.3:c.2873G>A	XP_005266162.1:p.Arg958Gln
XM_005266110.1:c.2789G>A	XP_005266167.1:p.Arg930Gln
XM_006717288.2:c.2864G>A	XP_006717351.1:p.Arg955Gln
XM_011519021.1:c.2891G>A	XP_011517323.1:p.Arg964Gln
XM_011519022.1:c.2888G>A	XP_011517324.1:p.Arg963Gln
XM_011519023.1:c.2870G>A	XP_011517325.1:p.Arg957Gln
XM_011519024.1:c.2813G>A	XP_011517326.1:p.Arg938Gln
XM_011519025.1:c.2789G>A	XP_011517327.1:p.Arg930Gln
XM_011519026.1:c.2747G>A	XP_011517328.1:p.Arg916Gln
XM_011519029.1:c.1313G>A	XP_011517331.1:p.Arg438Gln
XM_011519030.1:c.665G>A	XP_011517332.1:p.Arg222Gln
XM_011519031.1:c.452G>A	XP_011517333.1:p.Arg151Gln
XM_011519032.1:c.452G>A	XP_011517334.1:p.Arg151Gln
XM_011519033.1:c.2726G>A	XP_011517335.1:p.Arg909Gln
NM_001354263.1:c.2861G>A	NP_001341192.1:p.Arg954Gln
XM_005266105.5:c.2873G>A	XP_005266162.1:p.Arg958Gln
XM_011519021.3:c.2891G>A	XP_011517323.1:p.Arg964Gln
XM_011519022.3:c.2888G>A	XP_011517324.1:p.Arg963Gln
XM_011519023.3:c.2870G>A	XP_011517325.1:p.Arg957Gln
XM_011519029.3:c.1313G>A	XP_011517331.1:p.Arg438Gln
XM_011519030.3:c.665G>A	XP_011517332.1:p.Arg222Gln
XM_017015134.1:c.2867G>A	XP_016870623.1:p.Arg956Gln
XM_017015136.2:c.2783G>A	XP_016870625.1:p.Arg928Gln
XM_017015137.1:c.2768G>A	XP_016870626.1:p.Arg923Gln
XM_017015138.1:c.2768G>A	XP_016870627.1:p.Arg923Gln
XM_024447674.1:c.2711G>A	XP_024303442.1:p.Arg904Gln
XM_024447675.1:c.2645G>A	XP_024303443.1:p.Arg882Gln
XM_024447676.1:c.2006G>A	XP_024303444.1:p.Arg669Gln
XM_024447677.1:c.2006G>A	XP_024303445.1:p.Arg669Gln
XM_024447680.1:c.2624G>A	XP_024303448.1:p.Arg875Gln
NM_024757.5:c.2882G>A MANE Select	NP_079033.4:p.Arg961Gln
NM_001354263.2:c.2861G>A	NP_001341192.1:p.Arg954Gln