Canonical Allele Identifier: CA5375080

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 565784
• ClinVar RCV Id: RCV000685426
• dbSNP Id: rs780044713
• ExAC: 9:140706064 T / C
• gnomAD v2: 9-140706064-T-C
• gnomAD v3: 9-137811612-T-C
• gnomAD v4: 9-137811612-T-C
• MyVariant Identifiers: chr9:g.140706064T>C (hg19) ; chr9:g.137811612T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137811612T>C , CM000671.2:g.137811612T>C	GRCh38
NC_000009.11:g.140706064T>C , CM000671.1:g.140706064T>C	GRCh37
NC_000009.10:g.139825885T>C	NCBI36
NG_011776.1:g.197621T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2864T>C MANE Select	ENSP00000417980.1:p.Val955Ala
ENST00000636027.1:c.2750T>C	ENSP00000489961.1:p.Val917Ala
ENST00000637161.1:c.2771T>C	ENSP00000490328.1:p.Val924Ala
ENST00000637261.1:c.2904T>C	ENSP00000490815.1:n.2904T>C
ENST00000637891.1:c.758T>C	ENSP00000490907.1:p.Val253Ala
ENST00000460843.5:c.2864T>C	ENSP00000417980.1:p.Val955Ala
ENST00000462942.3:c.1721T>C	ENSP00000436107.1:p.Val574Ala
ENST00000486164.5:c.551T>C
ENST00000488242.2:n.390T>C
NM_024757.4:c.2864T>C	NP_079033.4:p.Val955Ala
XM_005266105.3:c.2855T>C	XP_005266162.1:p.Val952Ala
XM_005266110.1:c.2771T>C	XP_005266167.1:p.Val924Ala
XM_006717288.2:c.2846T>C	XP_006717351.1:p.Val949Ala
XM_011519021.1:c.2873T>C	XP_011517323.1:p.Val958Ala
XM_011519022.1:c.2870T>C	XP_011517324.1:p.Val957Ala
XM_011519023.1:c.2852T>C	XP_011517325.1:p.Val951Ala
XM_011519024.1:c.2795T>C	XP_011517326.1:p.Val932Ala
XM_011519025.1:c.2771T>C	XP_011517327.1:p.Val924Ala
XM_011519026.1:c.2729T>C	XP_011517328.1:p.Val910Ala
XM_011519029.1:c.1295T>C	XP_011517331.1:p.Val432Ala
XM_011519030.1:c.647T>C	XP_011517332.1:p.Val216Ala
XM_011519031.1:c.434T>C	XP_011517333.1:p.Val145Ala
XM_011519032.1:c.434T>C	XP_011517334.1:p.Val145Ala
XM_011519033.1:c.2708T>C	XP_011517335.1:p.Val903Ala
NM_001354263.1:c.2843T>C	NP_001341192.1:p.Val948Ala
XM_005266105.5:c.2855T>C	XP_005266162.1:p.Val952Ala
XM_011519021.3:c.2873T>C	XP_011517323.1:p.Val958Ala
XM_011519022.3:c.2870T>C	XP_011517324.1:p.Val957Ala
XM_011519023.3:c.2852T>C	XP_011517325.1:p.Val951Ala
XM_011519029.3:c.1295T>C	XP_011517331.1:p.Val432Ala
XM_011519030.3:c.647T>C	XP_011517332.1:p.Val216Ala
XM_017015134.1:c.2849T>C	XP_016870623.1:p.Val950Ala
XM_017015136.2:c.2765T>C	XP_016870625.1:p.Val922Ala
XM_017015137.1:c.2750T>C	XP_016870626.1:p.Val917Ala
XM_017015138.1:c.2750T>C	XP_016870627.1:p.Val917Ala
XM_024447674.1:c.2693T>C	XP_024303442.1:p.Val898Ala
XM_024447675.1:c.2627T>C	XP_024303443.1:p.Val876Ala
XM_024447676.1:c.1988T>C	XP_024303444.1:p.Val663Ala
XM_024447677.1:c.1988T>C	XP_024303445.1:p.Val663Ala
XM_024447680.1:c.2606T>C	XP_024303448.1:p.Val869Ala
NM_024757.5:c.2864T>C MANE Select	NP_079033.4:p.Val955Ala
NM_001354263.2:c.2843T>C	NP_001341192.1:p.Val948Ala