Canonical Allele Identifier: CA468161054

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1140491
• ClinVar RCV Id: RCV001477566
• dbSNP Id: rs1343974100
• gnomAD v4: 9-137813069-G-A
• MyVariant Identifiers: chr9:g.140707521G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813069G>A , CM000671.2:g.137813069G>A	GRCh38
NC_000009.11:g.140707521G>A , CM000671.1:g.140707521G>A	GRCh37
NC_000009.10:g.139827342G>A	NCBI36
NG_011776.1:g.199078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2931G>A MANE Select	ENSP00000417980.1:p.Gln977=
ENST00000636027.1:c.2817G>A	ENSP00000489961.1:p.Gln939=
ENST00000637161.1:c.2838G>A	ENSP00000490328.1:p.Gln946=
ENST00000637261.1:c.2971G>A	ENSP00000490815.1:n.2971G>A
ENST00000637891.1:c.825G>A	ENSP00000490907.1:p.Gln275=
ENST00000460843.5:c.2931G>A	ENSP00000417980.1:p.Gln977=
ENST00000462942.3:c.1788G>A	ENSP00000436107.1:p.Gln596=
ENST00000486164.5:c.618G>A
ENST00000488242.2:n.457G>A
NM_024757.4:c.2931G>A	NP_079033.4:p.Gln977=
XM_005266105.3:c.2922G>A	XP_005266162.1:p.Gln974=
XM_005266110.1:c.2838G>A	XP_005266167.1:p.Gln946=
XM_006717288.2:c.2913G>A	XP_006717351.1:p.Gln971=
XM_011519021.1:c.2940G>A	XP_011517323.1:p.Gln980=
XM_011519022.1:c.2937G>A	XP_011517324.1:p.Gln979=
XM_011519023.1:c.2919G>A	XP_011517325.1:p.Gln973=
XM_011519024.1:c.2862G>A	XP_011517326.1:p.Gln954=
XM_011519025.1:c.2838G>A	XP_011517327.1:p.Gln946=
XM_011519026.1:c.2796G>A	XP_011517328.1:p.Gln932=
XM_011519029.1:c.1362G>A	XP_011517331.1:p.Gln454=
XM_011519030.1:c.714G>A	XP_011517332.1:p.Gln238=
XM_011519031.1:c.501G>A	XP_011517333.1:p.Gln167=
XM_011519032.1:c.501G>A	XP_011517334.1:p.Gln167=
XM_011519033.1:c.2775G>A	XP_011517335.1:p.Gln925=
NM_001354263.1:c.2910G>A	NP_001341192.1:p.Gln970=
XM_005266105.5:c.2922G>A	XP_005266162.1:p.Gln974=
XM_011519021.3:c.2940G>A	XP_011517323.1:p.Gln980=
XM_011519022.3:c.2937G>A	XP_011517324.1:p.Gln979=
XM_011519023.3:c.2919G>A	XP_011517325.1:p.Gln973=
XM_011519029.3:c.1362G>A	XP_011517331.1:p.Gln454=
XM_011519030.3:c.714G>A	XP_011517332.1:p.Gln238=
XM_017015134.1:c.2916G>A	XP_016870623.1:p.Gln972=
XM_017015136.2:c.2832G>A	XP_016870625.1:p.Gln944=
XM_017015137.1:c.2817G>A	XP_016870626.1:p.Gln939=
XM_017015138.1:c.2817G>A	XP_016870627.1:p.Gln939=
XM_024447674.1:c.2760G>A	XP_024303442.1:p.Gln920=
XM_024447675.1:c.2694G>A	XP_024303443.1:p.Gln898=
XM_024447676.1:c.2055G>A	XP_024303444.1:p.Gln685=
XM_024447677.1:c.2055G>A	XP_024303445.1:p.Gln685=
XM_024447680.1:c.2673G>A	XP_024303448.1:p.Gln891=
NM_024757.5:c.2931G>A MANE Select	NP_079033.4:p.Gln977=
NM_001354263.2:c.2910G>A	NP_001341192.1:p.Gln970=