Canonical Allele Identifier: CA5375101

Gene: EHMT1

Linked Data

• dbSNP Id: rs768660574
• ExAC: 9:140707499 A / G
• gnomAD v2: 9-140707499-A-G
• gnomAD v4: 9-137813047-A-G
• MyVariant Identifiers: chr9:g.140707499A>G (hg19) ; chr9:g.137813047A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813047A>G , CM000671.2:g.137813047A>G	GRCh38
NC_000009.11:g.140707499A>G , CM000671.1:g.140707499A>G	GRCh37
NC_000009.10:g.139827320A>G	NCBI36
NG_011776.1:g.199056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2909A>G MANE Select	ENSP00000417980.1:p.Lys970Arg
ENST00000636027.1:c.2795A>G	ENSP00000489961.1:p.Lys932Arg
ENST00000637161.1:c.2816A>G	ENSP00000490328.1:p.Lys939Arg
ENST00000637261.1:c.2949A>G	ENSP00000490815.1:n.2949A>G
ENST00000637891.1:c.803A>G	ENSP00000490907.1:p.Lys268Arg
ENST00000460843.5:c.2909A>G	ENSP00000417980.1:p.Lys970Arg
ENST00000462942.3:c.1766A>G	ENSP00000436107.1:p.Lys589Arg
ENST00000486164.5:c.596A>G
ENST00000488242.2:n.435A>G
NM_024757.4:c.2909A>G	NP_079033.4:p.Lys970Arg
XM_005266105.3:c.2900A>G	XP_005266162.1:p.Lys967Arg
XM_005266110.1:c.2816A>G	XP_005266167.1:p.Lys939Arg
XM_006717288.2:c.2891A>G	XP_006717351.1:p.Lys964Arg
XM_011519021.1:c.2918A>G	XP_011517323.1:p.Lys973Arg
XM_011519022.1:c.2915A>G	XP_011517324.1:p.Lys972Arg
XM_011519023.1:c.2897A>G	XP_011517325.1:p.Lys966Arg
XM_011519024.1:c.2840A>G	XP_011517326.1:p.Lys947Arg
XM_011519025.1:c.2816A>G	XP_011517327.1:p.Lys939Arg
XM_011519026.1:c.2774A>G	XP_011517328.1:p.Lys925Arg
XM_011519029.1:c.1340A>G	XP_011517331.1:p.Lys447Arg
XM_011519030.1:c.692A>G	XP_011517332.1:p.Lys231Arg
XM_011519031.1:c.479A>G	XP_011517333.1:p.Lys160Arg
XM_011519032.1:c.479A>G	XP_011517334.1:p.Lys160Arg
XM_011519033.1:c.2753A>G	XP_011517335.1:p.Lys918Arg
NM_001354263.1:c.2888A>G	NP_001341192.1:p.Lys963Arg
XM_005266105.5:c.2900A>G	XP_005266162.1:p.Lys967Arg
XM_011519021.3:c.2918A>G	XP_011517323.1:p.Lys973Arg
XM_011519022.3:c.2915A>G	XP_011517324.1:p.Lys972Arg
XM_011519023.3:c.2897A>G	XP_011517325.1:p.Lys966Arg
XM_011519029.3:c.1340A>G	XP_011517331.1:p.Lys447Arg
XM_011519030.3:c.692A>G	XP_011517332.1:p.Lys231Arg
XM_017015134.1:c.2894A>G	XP_016870623.1:p.Lys965Arg
XM_017015136.2:c.2810A>G	XP_016870625.1:p.Lys937Arg
XM_017015137.1:c.2795A>G	XP_016870626.1:p.Lys932Arg
XM_017015138.1:c.2795A>G	XP_016870627.1:p.Lys932Arg
XM_024447674.1:c.2738A>G	XP_024303442.1:p.Lys913Arg
XM_024447675.1:c.2672A>G	XP_024303443.1:p.Lys891Arg
XM_024447676.1:c.2033A>G	XP_024303444.1:p.Lys678Arg
XM_024447677.1:c.2033A>G	XP_024303445.1:p.Lys678Arg
XM_024447680.1:c.2651A>G	XP_024303448.1:p.Lys884Arg
NM_024757.5:c.2909A>G MANE Select	NP_079033.4:p.Lys970Arg
NM_001354263.2:c.2888A>G	NP_001341192.1:p.Lys963Arg