Canonical Allele Identifier: CA375793388

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1285209
• ClinVar RCV Id: RCV001702022
• dbSNP Id: rs2137711618
• MyVariant Identifiers: chr9:g.140707519C>T (hg19) ; chr9:g.137813067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813067C>T , CM000671.2:g.137813067C>T	GRCh38
NC_000009.11:g.140707519C>T , CM000671.1:g.140707519C>T	GRCh37
NC_000009.10:g.139827340C>T	NCBI36
NG_011776.1:g.199076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2929C>T MANE Select	ENSP00000417980.1:p.Gln977Ter
ENST00000636027.1:c.2815C>T	ENSP00000489961.1:p.Gln939Ter
ENST00000637161.1:c.2836C>T	ENSP00000490328.1:p.Gln946Ter
ENST00000637261.1:c.2969C>T	ENSP00000490815.1:n.2969C>T
ENST00000637891.1:c.823C>T	ENSP00000490907.1:p.Gln275Ter
ENST00000460843.5:c.2929C>T	ENSP00000417980.1:p.Gln977Ter
ENST00000462942.3:c.1786C>T	ENSP00000436107.1:p.Gln596Ter
ENST00000486164.5:c.616C>T
ENST00000488242.2:n.455C>T
NM_024757.4:c.2929C>T	NP_079033.4:p.Gln977Ter
XM_005266105.3:c.2920C>T	XP_005266162.1:p.Gln974Ter
XM_005266110.1:c.2836C>T	XP_005266167.1:p.Gln946Ter
XM_006717288.2:c.2911C>T	XP_006717351.1:p.Gln971Ter
XM_011519021.1:c.2938C>T	XP_011517323.1:p.Gln980Ter
XM_011519022.1:c.2935C>T	XP_011517324.1:p.Gln979Ter
XM_011519023.1:c.2917C>T	XP_011517325.1:p.Gln973Ter
XM_011519024.1:c.2860C>T	XP_011517326.1:p.Gln954Ter
XM_011519025.1:c.2836C>T	XP_011517327.1:p.Gln946Ter
XM_011519026.1:c.2794C>T	XP_011517328.1:p.Gln932Ter
XM_011519029.1:c.1360C>T	XP_011517331.1:p.Gln454Ter
XM_011519030.1:c.712C>T	XP_011517332.1:p.Gln238Ter
XM_011519031.1:c.499C>T	XP_011517333.1:p.Gln167Ter
XM_011519032.1:c.499C>T	XP_011517334.1:p.Gln167Ter
XM_011519033.1:c.2773C>T	XP_011517335.1:p.Gln925Ter
NM_001354263.1:c.2908C>T	NP_001341192.1:p.Gln970Ter
XM_005266105.5:c.2920C>T	XP_005266162.1:p.Gln974Ter
XM_011519021.3:c.2938C>T	XP_011517323.1:p.Gln980Ter
XM_011519022.3:c.2935C>T	XP_011517324.1:p.Gln979Ter
XM_011519023.3:c.2917C>T	XP_011517325.1:p.Gln973Ter
XM_011519029.3:c.1360C>T	XP_011517331.1:p.Gln454Ter
XM_011519030.3:c.712C>T	XP_011517332.1:p.Gln238Ter
XM_017015134.1:c.2914C>T	XP_016870623.1:p.Gln972Ter
XM_017015136.2:c.2830C>T	XP_016870625.1:p.Gln944Ter
XM_017015137.1:c.2815C>T	XP_016870626.1:p.Gln939Ter
XM_017015138.1:c.2815C>T	XP_016870627.1:p.Gln939Ter
XM_024447674.1:c.2758C>T	XP_024303442.1:p.Gln920Ter
XM_024447675.1:c.2692C>T	XP_024303443.1:p.Gln898Ter
XM_024447676.1:c.2053C>T	XP_024303444.1:p.Gln685Ter
XM_024447677.1:c.2053C>T	XP_024303445.1:p.Gln685Ter
XM_024447680.1:c.2671C>T	XP_024303448.1:p.Gln891Ter
NM_024757.5:c.2929C>T MANE Select	NP_079033.4:p.Gln977Ter
NM_001354263.2:c.2908C>T	NP_001341192.1:p.Gln970Ter