Canonical Allele Identifier: CA5375081

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1796991
• ClinVar RCV Id: RCV002437616
• dbSNP Id: rs749354858
• ExAC: 9:140706065 C / A
• gnomAD v2: 9-140706065-C-A
• gnomAD v4: 9-137811613-C-A
• MyVariant Identifiers: chr9:g.140706065C>A (hg19) ; chr9:g.137811613C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137811613C>A , CM000671.2:g.137811613C>A	GRCh38
NC_000009.11:g.140706065C>A , CM000671.1:g.140706065C>A	GRCh37
NC_000009.10:g.139825886C>A	NCBI36
NG_011776.1:g.197622C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2865C>A MANE Select	ENSP00000417980.1:p.Val955=
ENST00000636027.1:c.2751C>A	ENSP00000489961.1:p.Val917=
ENST00000637161.1:c.2772C>A	ENSP00000490328.1:p.Val924=
ENST00000637261.1:c.2905C>A	ENSP00000490815.1:n.2905C>A
ENST00000637891.1:c.759C>A	ENSP00000490907.1:p.Val253=
ENST00000460843.5:c.2865C>A	ENSP00000417980.1:p.Val955=
ENST00000462942.3:c.1722C>A	ENSP00000436107.1:p.Val574=
ENST00000486164.5:c.552C>A
ENST00000488242.2:n.391C>A
NM_024757.4:c.2865C>A	NP_079033.4:p.Val955=
XM_005266105.3:c.2856C>A	XP_005266162.1:p.Val952=
XM_005266110.1:c.2772C>A	XP_005266167.1:p.Val924=
XM_006717288.2:c.2847C>A	XP_006717351.1:p.Val949=
XM_011519021.1:c.2874C>A	XP_011517323.1:p.Val958=
XM_011519022.1:c.2871C>A	XP_011517324.1:p.Val957=
XM_011519023.1:c.2853C>A	XP_011517325.1:p.Val951=
XM_011519024.1:c.2796C>A	XP_011517326.1:p.Val932=
XM_011519025.1:c.2772C>A	XP_011517327.1:p.Val924=
XM_011519026.1:c.2730C>A	XP_011517328.1:p.Val910=
XM_011519029.1:c.1296C>A	XP_011517331.1:p.Val432=
XM_011519030.1:c.648C>A	XP_011517332.1:p.Val216=
XM_011519031.1:c.435C>A	XP_011517333.1:p.Val145=
XM_011519032.1:c.435C>A	XP_011517334.1:p.Val145=
XM_011519033.1:c.2709C>A	XP_011517335.1:p.Val903=
NM_001354263.1:c.2844C>A	NP_001341192.1:p.Val948=
XM_005266105.5:c.2856C>A	XP_005266162.1:p.Val952=
XM_011519021.3:c.2874C>A	XP_011517323.1:p.Val958=
XM_011519022.3:c.2871C>A	XP_011517324.1:p.Val957=
XM_011519023.3:c.2853C>A	XP_011517325.1:p.Val951=
XM_011519029.3:c.1296C>A	XP_011517331.1:p.Val432=
XM_011519030.3:c.648C>A	XP_011517332.1:p.Val216=
XM_017015134.1:c.2850C>A	XP_016870623.1:p.Val950=
XM_017015136.2:c.2766C>A	XP_016870625.1:p.Val922=
XM_017015137.1:c.2751C>A	XP_016870626.1:p.Val917=
XM_017015138.1:c.2751C>A	XP_016870627.1:p.Val917=
XM_024447674.1:c.2694C>A	XP_024303442.1:p.Val898=
XM_024447675.1:c.2628C>A	XP_024303443.1:p.Val876=
XM_024447676.1:c.1989C>A	XP_024303444.1:p.Val663=
XM_024447677.1:c.1989C>A	XP_024303445.1:p.Val663=
XM_024447680.1:c.2607C>A	XP_024303448.1:p.Val869=
NM_024757.5:c.2865C>A MANE Select	NP_079033.4:p.Val955=
NM_001354263.2:c.2844C>A	NP_001341192.1:p.Val948=