Canonical Allele Identifier: CA375793188

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2661965
• ClinVar RCV Id: RCV003443265
• MyVariant Identifiers: chr9:g.140707465C>T (hg19) ; chr9:g.137813013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813013C>T , CM000671.2:g.137813013C>T	GRCh38
NC_000009.11:g.140707465C>T , CM000671.1:g.140707465C>T	GRCh37
NC_000009.10:g.139827286C>T	NCBI36
NG_011776.1:g.199022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2875C>T MANE Select	ENSP00000417980.1:p.Leu959Phe
ENST00000636027.1:c.2761C>T	ENSP00000489961.1:p.Leu921Phe
ENST00000637161.1:c.2782C>T	ENSP00000490328.1:p.Leu928Phe
ENST00000637261.1:c.2915C>T	ENSP00000490815.1:n.2915C>T
ENST00000637891.1:c.769C>T	ENSP00000490907.1:p.Leu257Phe
ENST00000460843.5:c.2875C>T	ENSP00000417980.1:p.Leu959Phe
ENST00000462942.3:c.1732C>T	ENSP00000436107.1:p.Leu578Phe
ENST00000486164.5:c.562C>T
ENST00000488242.2:n.401C>T
NM_024757.4:c.2875C>T	NP_079033.4:p.Leu959Phe
XM_005266105.3:c.2866C>T	XP_005266162.1:p.Leu956Phe
XM_005266110.1:c.2782C>T	XP_005266167.1:p.Leu928Phe
XM_006717288.2:c.2857C>T	XP_006717351.1:p.Leu953Phe
XM_011519021.1:c.2884C>T	XP_011517323.1:p.Leu962Phe
XM_011519022.1:c.2881C>T	XP_011517324.1:p.Leu961Phe
XM_011519023.1:c.2863C>T	XP_011517325.1:p.Leu955Phe
XM_011519024.1:c.2806C>T	XP_011517326.1:p.Leu936Phe
XM_011519025.1:c.2782C>T	XP_011517327.1:p.Leu928Phe
XM_011519026.1:c.2740C>T	XP_011517328.1:p.Leu914Phe
XM_011519029.1:c.1306C>T	XP_011517331.1:p.Leu436Phe
XM_011519030.1:c.658C>T	XP_011517332.1:p.Leu220Phe
XM_011519031.1:c.445C>T	XP_011517333.1:p.Leu149Phe
XM_011519032.1:c.445C>T	XP_011517334.1:p.Leu149Phe
XM_011519033.1:c.2719C>T	XP_011517335.1:p.Leu907Phe
NM_001354263.1:c.2854C>T	NP_001341192.1:p.Leu952Phe
XM_005266105.5:c.2866C>T	XP_005266162.1:p.Leu956Phe
XM_011519021.3:c.2884C>T	XP_011517323.1:p.Leu962Phe
XM_011519022.3:c.2881C>T	XP_011517324.1:p.Leu961Phe
XM_011519023.3:c.2863C>T	XP_011517325.1:p.Leu955Phe
XM_011519029.3:c.1306C>T	XP_011517331.1:p.Leu436Phe
XM_011519030.3:c.658C>T	XP_011517332.1:p.Leu220Phe
XM_017015134.1:c.2860C>T	XP_016870623.1:p.Leu954Phe
XM_017015136.2:c.2776C>T	XP_016870625.1:p.Leu926Phe
XM_017015137.1:c.2761C>T	XP_016870626.1:p.Leu921Phe
XM_017015138.1:c.2761C>T	XP_016870627.1:p.Leu921Phe
XM_024447674.1:c.2704C>T	XP_024303442.1:p.Leu902Phe
XM_024447675.1:c.2638C>T	XP_024303443.1:p.Leu880Phe
XM_024447676.1:c.1999C>T	XP_024303444.1:p.Leu667Phe
XM_024447677.1:c.1999C>T	XP_024303445.1:p.Leu667Phe
XM_024447680.1:c.2617C>T	XP_024303448.1:p.Leu873Phe
NM_024757.5:c.2875C>T MANE Select	NP_079033.4:p.Leu959Phe
NM_001354263.2:c.2854C>T	NP_001341192.1:p.Leu952Phe