Canonical Allele Identifier: CA468161039

Gene: EHMT1

Linked Data

• dbSNP Id: rs1954620444
• gnomAD v4: 9-137813039-A-G
• MyVariant Identifiers: chr9:g.140707491A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813039A>G , CM000671.2:g.137813039A>G	GRCh38
NC_000009.11:g.140707491A>G , CM000671.1:g.140707491A>G	GRCh37
NC_000009.10:g.139827312A>G	NCBI36
NG_011776.1:g.199048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2901A>G MANE Select	ENSP00000417980.1:p.Leu967=
ENST00000636027.1:c.2787A>G	ENSP00000489961.1:p.Leu929=
ENST00000637161.1:c.2808A>G	ENSP00000490328.1:p.Leu936=
ENST00000637261.1:c.2941A>G	ENSP00000490815.1:n.2941A>G
ENST00000637891.1:c.795A>G	ENSP00000490907.1:p.Leu265=
ENST00000460843.5:c.2901A>G	ENSP00000417980.1:p.Leu967=
ENST00000462942.3:c.1758A>G	ENSP00000436107.1:p.Leu586=
ENST00000486164.5:c.588A>G
ENST00000488242.2:n.427A>G
NM_024757.4:c.2901A>G	NP_079033.4:p.Leu967=
XM_005266105.3:c.2892A>G	XP_005266162.1:p.Leu964=
XM_005266110.1:c.2808A>G	XP_005266167.1:p.Leu936=
XM_006717288.2:c.2883A>G	XP_006717351.1:p.Leu961=
XM_011519021.1:c.2910A>G	XP_011517323.1:p.Leu970=
XM_011519022.1:c.2907A>G	XP_011517324.1:p.Leu969=
XM_011519023.1:c.2889A>G	XP_011517325.1:p.Leu963=
XM_011519024.1:c.2832A>G	XP_011517326.1:p.Leu944=
XM_011519025.1:c.2808A>G	XP_011517327.1:p.Leu936=
XM_011519026.1:c.2766A>G	XP_011517328.1:p.Leu922=
XM_011519029.1:c.1332A>G	XP_011517331.1:p.Leu444=
XM_011519030.1:c.684A>G	XP_011517332.1:p.Leu228=
XM_011519031.1:c.471A>G	XP_011517333.1:p.Leu157=
XM_011519032.1:c.471A>G	XP_011517334.1:p.Leu157=
XM_011519033.1:c.2745A>G	XP_011517335.1:p.Leu915=
NM_001354263.1:c.2880A>G	NP_001341192.1:p.Leu960=
XM_005266105.5:c.2892A>G	XP_005266162.1:p.Leu964=
XM_011519021.3:c.2910A>G	XP_011517323.1:p.Leu970=
XM_011519022.3:c.2907A>G	XP_011517324.1:p.Leu969=
XM_011519023.3:c.2889A>G	XP_011517325.1:p.Leu963=
XM_011519029.3:c.1332A>G	XP_011517331.1:p.Leu444=
XM_011519030.3:c.684A>G	XP_011517332.1:p.Leu228=
XM_017015134.1:c.2886A>G	XP_016870623.1:p.Leu962=
XM_017015136.2:c.2802A>G	XP_016870625.1:p.Leu934=
XM_017015137.1:c.2787A>G	XP_016870626.1:p.Leu929=
XM_017015138.1:c.2787A>G	XP_016870627.1:p.Leu929=
XM_024447674.1:c.2730A>G	XP_024303442.1:p.Leu910=
XM_024447675.1:c.2664A>G	XP_024303443.1:p.Leu888=
XM_024447676.1:c.2025A>G	XP_024303444.1:p.Leu675=
XM_024447677.1:c.2025A>G	XP_024303445.1:p.Leu675=
XM_024447680.1:c.2643A>G	XP_024303448.1:p.Leu881=
NM_024757.5:c.2901A>G MANE Select	NP_079033.4:p.Leu967=
NM_001354263.2:c.2880A>G	NP_001341192.1:p.Leu960=