Canonical Allele Identifier: CA5375128

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1158373
• ClinVar RCV Id: RCV001501758 ; RCV001576813
• dbSNP Id: rs767195768
• ExAC: 9:140707612 A / C
• gnomAD v2: 9-140707612-A-C
• gnomAD v3: 9-137813160-A-C
• gnomAD v4: 9-137813160-A-C
• MyVariant Identifiers: chr9:g.140707612A>C (hg19) ; chr9:g.137813160A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813160A>C , CM000671.2:g.137813160A>C	GRCh38
NC_000009.11:g.140707612A>C , CM000671.1:g.140707612A>C	GRCh37
NC_000009.10:g.139827433A>C	NCBI36
NG_011776.1:g.199169A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3022A>C MANE Select	ENSP00000417980.1:p.Arg1008=
ENST00000636027.1:c.2908A>C	ENSP00000489961.1:p.Arg970=
ENST00000637161.1:c.2929A>C	ENSP00000490328.1:p.Arg977=
ENST00000637261.1:c.3062A>C	ENSP00000490815.1:n.3062A>C
ENST00000637891.1:c.916A>C	ENSP00000490907.1:p.Arg306=
ENST00000460843.5:c.3022A>C	ENSP00000417980.1:p.Arg1008=
ENST00000462942.3:c.1879A>C	ENSP00000436107.1:p.Arg627=
ENST00000486164.5:c.709A>C
ENST00000488242.2:n.548A>C
NM_024757.4:c.3022A>C	NP_079033.4:p.Arg1008=
XM_005266105.3:c.3013A>C	XP_005266162.1:p.Arg1005=
XM_005266110.1:c.2929A>C	XP_005266167.1:p.Arg977=
XM_006717288.2:c.3004A>C	XP_006717351.1:p.Arg1002=
XM_011519021.1:c.3031A>C	XP_011517323.1:p.Arg1011=
XM_011519022.1:c.3028A>C	XP_011517324.1:p.Arg1010=
XM_011519023.1:c.3010A>C	XP_011517325.1:p.Arg1004=
XM_011519024.1:c.2953A>C	XP_011517326.1:p.Arg985=
XM_011519025.1:c.2929A>C	XP_011517327.1:p.Arg977=
XM_011519026.1:c.2887A>C	XP_011517328.1:p.Arg963=
XM_011519029.1:c.1453A>C	XP_011517331.1:p.Arg485=
XM_011519030.1:c.805A>C	XP_011517332.1:p.Arg269=
XM_011519031.1:c.592A>C	XP_011517333.1:p.Arg198=
XM_011519032.1:c.592A>C	XP_011517334.1:p.Arg198=
XM_011519033.1:c.2866A>C	XP_011517335.1:p.Arg956=
NM_001354263.1:c.3001A>C	NP_001341192.1:p.Arg1001=
XM_005266105.5:c.3013A>C	XP_005266162.1:p.Arg1005=
XM_011519021.3:c.3031A>C	XP_011517323.1:p.Arg1011=
XM_011519022.3:c.3028A>C	XP_011517324.1:p.Arg1010=
XM_011519023.3:c.3010A>C	XP_011517325.1:p.Arg1004=
XM_011519029.3:c.1453A>C	XP_011517331.1:p.Arg485=
XM_011519030.3:c.805A>C	XP_011517332.1:p.Arg269=
XM_017015134.1:c.3007A>C	XP_016870623.1:p.Arg1003=
XM_017015136.2:c.2923A>C	XP_016870625.1:p.Arg975=
XM_017015137.1:c.2908A>C	XP_016870626.1:p.Arg970=
XM_017015138.1:c.2908A>C	XP_016870627.1:p.Arg970=
XM_024447674.1:c.2851A>C	XP_024303442.1:p.Arg951=
XM_024447675.1:c.2785A>C	XP_024303443.1:p.Arg929=
XM_024447676.1:c.2146A>C	XP_024303444.1:p.Arg716=
XM_024447677.1:c.2146A>C	XP_024303445.1:p.Arg716=
XM_024447680.1:c.2764A>C	XP_024303448.1:p.Arg922=
NM_024757.5:c.3022A>C MANE Select	NP_079033.4:p.Arg1008=
NM_001354263.2:c.3001A>C	NP_001341192.1:p.Arg1001=