Canonical Allele Identifier: CA375793452

Gene: EHMT1

Linked Data

• dbSNP Id: rs1340847584
• gnomAD v2: 9-140707534-A-G
• gnomAD v3: 9-137813082-A-G
• gnomAD v4: 9-137813082-A-G
• MyVariant Identifiers: chr9:g.140707534A>G (hg19) ; chr9:g.137813082A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813082A>G , CM000671.2:g.137813082A>G	GRCh38
NC_000009.11:g.140707534A>G , CM000671.1:g.140707534A>G	GRCh37
NC_000009.10:g.139827355A>G	NCBI36
NG_011776.1:g.199091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2944A>G MANE Select	ENSP00000417980.1:p.Asn982Asp
ENST00000636027.1:c.2830A>G	ENSP00000489961.1:p.Asn944Asp
ENST00000637161.1:c.2851A>G	ENSP00000490328.1:p.Asn951Asp
ENST00000637261.1:c.2984A>G	ENSP00000490815.1:n.2984A>G
ENST00000637891.1:c.838A>G	ENSP00000490907.1:p.Asn280Asp
ENST00000460843.5:c.2944A>G	ENSP00000417980.1:p.Asn982Asp
ENST00000462942.3:c.1801A>G	ENSP00000436107.1:p.Asn601Asp
ENST00000486164.5:c.631A>G
ENST00000488242.2:n.470A>G
NM_024757.4:c.2944A>G	NP_079033.4:p.Asn982Asp
XM_005266105.3:c.2935A>G	XP_005266162.1:p.Asn979Asp
XM_005266110.1:c.2851A>G	XP_005266167.1:p.Asn951Asp
XM_006717288.2:c.2926A>G	XP_006717351.1:p.Asn976Asp
XM_011519021.1:c.2953A>G	XP_011517323.1:p.Asn985Asp
XM_011519022.1:c.2950A>G	XP_011517324.1:p.Asn984Asp
XM_011519023.1:c.2932A>G	XP_011517325.1:p.Asn978Asp
XM_011519024.1:c.2875A>G	XP_011517326.1:p.Asn959Asp
XM_011519025.1:c.2851A>G	XP_011517327.1:p.Asn951Asp
XM_011519026.1:c.2809A>G	XP_011517328.1:p.Asn937Asp
XM_011519029.1:c.1375A>G	XP_011517331.1:p.Asn459Asp
XM_011519030.1:c.727A>G	XP_011517332.1:p.Asn243Asp
XM_011519031.1:c.514A>G	XP_011517333.1:p.Asn172Asp
XM_011519032.1:c.514A>G	XP_011517334.1:p.Asn172Asp
XM_011519033.1:c.2788A>G	XP_011517335.1:p.Asn930Asp
NM_001354263.1:c.2923A>G	NP_001341192.1:p.Asn975Asp
XM_005266105.5:c.2935A>G	XP_005266162.1:p.Asn979Asp
XM_011519021.3:c.2953A>G	XP_011517323.1:p.Asn985Asp
XM_011519022.3:c.2950A>G	XP_011517324.1:p.Asn984Asp
XM_011519023.3:c.2932A>G	XP_011517325.1:p.Asn978Asp
XM_011519029.3:c.1375A>G	XP_011517331.1:p.Asn459Asp
XM_011519030.3:c.727A>G	XP_011517332.1:p.Asn243Asp
XM_017015134.1:c.2929A>G	XP_016870623.1:p.Asn977Asp
XM_017015136.2:c.2845A>G	XP_016870625.1:p.Asn949Asp
XM_017015137.1:c.2830A>G	XP_016870626.1:p.Asn944Asp
XM_017015138.1:c.2830A>G	XP_016870627.1:p.Asn944Asp
XM_024447674.1:c.2773A>G	XP_024303442.1:p.Asn925Asp
XM_024447675.1:c.2707A>G	XP_024303443.1:p.Asn903Asp
XM_024447676.1:c.2068A>G	XP_024303444.1:p.Asn690Asp
XM_024447677.1:c.2068A>G	XP_024303445.1:p.Asn690Asp
XM_024447680.1:c.2686A>G	XP_024303448.1:p.Asn896Asp
NM_024757.5:c.2944A>G MANE Select	NP_079033.4:p.Asn982Asp
NM_001354263.2:c.2923A>G	NP_001341192.1:p.Asn975Asp