Canonical Allele Identifier: CA468161060

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813081-C-G
• MyVariant Identifiers: chr9:g.140707533C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813081C>G , CM000671.2:g.137813081C>G	GRCh38
NC_000009.11:g.140707533C>G , CM000671.1:g.140707533C>G	GRCh37
NC_000009.10:g.139827354C>G	NCBI36
NG_011776.1:g.199090C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2943C>G MANE Select	ENSP00000417980.1:p.Leu981=
ENST00000636027.1:c.2829C>G	ENSP00000489961.1:p.Leu943=
ENST00000637161.1:c.2850C>G	ENSP00000490328.1:p.Leu950=
ENST00000637261.1:c.2983C>G	ENSP00000490815.1:n.2983C>G
ENST00000637891.1:c.837C>G	ENSP00000490907.1:p.Leu279=
ENST00000460843.5:c.2943C>G	ENSP00000417980.1:p.Leu981=
ENST00000462942.3:c.1800C>G	ENSP00000436107.1:p.Leu600=
ENST00000486164.5:c.630C>G
ENST00000488242.2:n.469C>G
NM_024757.4:c.2943C>G	NP_079033.4:p.Leu981=
XM_005266105.3:c.2934C>G	XP_005266162.1:p.Leu978=
XM_005266110.1:c.2850C>G	XP_005266167.1:p.Leu950=
XM_006717288.2:c.2925C>G	XP_006717351.1:p.Leu975=
XM_011519021.1:c.2952C>G	XP_011517323.1:p.Leu984=
XM_011519022.1:c.2949C>G	XP_011517324.1:p.Leu983=
XM_011519023.1:c.2931C>G	XP_011517325.1:p.Leu977=
XM_011519024.1:c.2874C>G	XP_011517326.1:p.Leu958=
XM_011519025.1:c.2850C>G	XP_011517327.1:p.Leu950=
XM_011519026.1:c.2808C>G	XP_011517328.1:p.Leu936=
XM_011519029.1:c.1374C>G	XP_011517331.1:p.Leu458=
XM_011519030.1:c.726C>G	XP_011517332.1:p.Leu242=
XM_011519031.1:c.513C>G	XP_011517333.1:p.Leu171=
XM_011519032.1:c.513C>G	XP_011517334.1:p.Leu171=
XM_011519033.1:c.2787C>G	XP_011517335.1:p.Leu929=
NM_001354263.1:c.2922C>G	NP_001341192.1:p.Leu974=
XM_005266105.5:c.2934C>G	XP_005266162.1:p.Leu978=
XM_011519021.3:c.2952C>G	XP_011517323.1:p.Leu984=
XM_011519022.3:c.2949C>G	XP_011517324.1:p.Leu983=
XM_011519023.3:c.2931C>G	XP_011517325.1:p.Leu977=
XM_011519029.3:c.1374C>G	XP_011517331.1:p.Leu458=
XM_011519030.3:c.726C>G	XP_011517332.1:p.Leu242=
XM_017015134.1:c.2928C>G	XP_016870623.1:p.Leu976=
XM_017015136.2:c.2844C>G	XP_016870625.1:p.Leu948=
XM_017015137.1:c.2829C>G	XP_016870626.1:p.Leu943=
XM_017015138.1:c.2829C>G	XP_016870627.1:p.Leu943=
XM_024447674.1:c.2772C>G	XP_024303442.1:p.Leu924=
XM_024447675.1:c.2706C>G	XP_024303443.1:p.Leu902=
XM_024447676.1:c.2067C>G	XP_024303444.1:p.Leu689=
XM_024447677.1:c.2067C>G	XP_024303445.1:p.Leu689=
XM_024447680.1:c.2685C>G	XP_024303448.1:p.Leu895=
NM_024757.5:c.2943C>G MANE Select	NP_079033.4:p.Leu981=
NM_001354263.2:c.2922C>G	NP_001341192.1:p.Leu974=