Canonical Allele Identifier: CA201843145

Gene: EHMT1

Linked Data

• dbSNP Id: rs1033407481
• gnomAD v3: 9-137813045-C-T
• gnomAD v4: 9-137813045-C-T
• MyVariant Identifiers: chr9:g.140707497C>T (hg19) ; chr9:g.137813045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813045C>T , CM000671.2:g.137813045C>T	GRCh38
NC_000009.11:g.140707497C>T , CM000671.1:g.140707497C>T	GRCh37
NC_000009.10:g.139827318C>T	NCBI36
NG_011776.1:g.199054C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2907C>T MANE Select	ENSP00000417980.1:p.Asn969=
ENST00000636027.1:c.2793C>T	ENSP00000489961.1:p.Asn931=
ENST00000637161.1:c.2814C>T	ENSP00000490328.1:p.Asn938=
ENST00000637261.1:c.2947C>T	ENSP00000490815.1:n.2947C>T
ENST00000637891.1:c.801C>T	ENSP00000490907.1:p.Asn267=
ENST00000460843.5:c.2907C>T	ENSP00000417980.1:p.Asn969=
ENST00000462942.3:c.1764C>T	ENSP00000436107.1:p.Asn588=
ENST00000486164.5:c.594C>T
ENST00000488242.2:n.433C>T
NM_024757.4:c.2907C>T	NP_079033.4:p.Asn969=
XM_005266105.3:c.2898C>T	XP_005266162.1:p.Asn966=
XM_005266110.1:c.2814C>T	XP_005266167.1:p.Asn938=
XM_006717288.2:c.2889C>T	XP_006717351.1:p.Asn963=
XM_011519021.1:c.2916C>T	XP_011517323.1:p.Asn972=
XM_011519022.1:c.2913C>T	XP_011517324.1:p.Asn971=
XM_011519023.1:c.2895C>T	XP_011517325.1:p.Asn965=
XM_011519024.1:c.2838C>T	XP_011517326.1:p.Asn946=
XM_011519025.1:c.2814C>T	XP_011517327.1:p.Asn938=
XM_011519026.1:c.2772C>T	XP_011517328.1:p.Asn924=
XM_011519029.1:c.1338C>T	XP_011517331.1:p.Asn446=
XM_011519030.1:c.690C>T	XP_011517332.1:p.Asn230=
XM_011519031.1:c.477C>T	XP_011517333.1:p.Asn159=
XM_011519032.1:c.477C>T	XP_011517334.1:p.Asn159=
XM_011519033.1:c.2751C>T	XP_011517335.1:p.Asn917=
NM_001354263.1:c.2886C>T	NP_001341192.1:p.Asn962=
XM_005266105.5:c.2898C>T	XP_005266162.1:p.Asn966=
XM_011519021.3:c.2916C>T	XP_011517323.1:p.Asn972=
XM_011519022.3:c.2913C>T	XP_011517324.1:p.Asn971=
XM_011519023.3:c.2895C>T	XP_011517325.1:p.Asn965=
XM_011519029.3:c.1338C>T	XP_011517331.1:p.Asn446=
XM_011519030.3:c.690C>T	XP_011517332.1:p.Asn230=
XM_017015134.1:c.2892C>T	XP_016870623.1:p.Asn964=
XM_017015136.2:c.2808C>T	XP_016870625.1:p.Asn936=
XM_017015137.1:c.2793C>T	XP_016870626.1:p.Asn931=
XM_017015138.1:c.2793C>T	XP_016870627.1:p.Asn931=
XM_024447674.1:c.2736C>T	XP_024303442.1:p.Asn912=
XM_024447675.1:c.2670C>T	XP_024303443.1:p.Asn890=
XM_024447676.1:c.2031C>T	XP_024303444.1:p.Asn677=
XM_024447677.1:c.2031C>T	XP_024303445.1:p.Asn677=
XM_024447680.1:c.2649C>T	XP_024303448.1:p.Asn883=
NM_024757.5:c.2907C>T MANE Select	NP_079033.4:p.Asn969=
NM_001354263.2:c.2886C>T	NP_001341192.1:p.Asn962=