Canonical Allele Identifier: CA201843116

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2191781
• ClinVar RCV Id: RCV002620775
• dbSNP Id: rs1000228341
• gnomAD v2: 9-140707467-T-C
• gnomAD v4: 9-137813015-T-C
• MyVariant Identifiers: chr9:g.140707467T>C (hg19) ; chr9:g.137813015T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813015T>C , CM000671.2:g.137813015T>C	GRCh38
NC_000009.11:g.140707467T>C , CM000671.1:g.140707467T>C	GRCh37
NC_000009.10:g.139827288T>C	NCBI36
NG_011776.1:g.199024T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2877T>C MANE Select	ENSP00000417980.1:p.Leu959=
ENST00000636027.1:c.2763T>C	ENSP00000489961.1:p.Leu921=
ENST00000637161.1:c.2784T>C	ENSP00000490328.1:p.Leu928=
ENST00000637261.1:c.2917T>C	ENSP00000490815.1:n.2917T>C
ENST00000637891.1:c.771T>C	ENSP00000490907.1:p.Leu257=
ENST00000460843.5:c.2877T>C	ENSP00000417980.1:p.Leu959=
ENST00000462942.3:c.1734T>C	ENSP00000436107.1:p.Leu578=
ENST00000486164.5:c.564T>C
ENST00000488242.2:n.403T>C
NM_024757.4:c.2877T>C	NP_079033.4:p.Leu959=
XM_005266105.3:c.2868T>C	XP_005266162.1:p.Leu956=
XM_005266110.1:c.2784T>C	XP_005266167.1:p.Leu928=
XM_006717288.2:c.2859T>C	XP_006717351.1:p.Leu953=
XM_011519021.1:c.2886T>C	XP_011517323.1:p.Leu962=
XM_011519022.1:c.2883T>C	XP_011517324.1:p.Leu961=
XM_011519023.1:c.2865T>C	XP_011517325.1:p.Leu955=
XM_011519024.1:c.2808T>C	XP_011517326.1:p.Leu936=
XM_011519025.1:c.2784T>C	XP_011517327.1:p.Leu928=
XM_011519026.1:c.2742T>C	XP_011517328.1:p.Leu914=
XM_011519029.1:c.1308T>C	XP_011517331.1:p.Leu436=
XM_011519030.1:c.660T>C	XP_011517332.1:p.Leu220=
XM_011519031.1:c.447T>C	XP_011517333.1:p.Leu149=
XM_011519032.1:c.447T>C	XP_011517334.1:p.Leu149=
XM_011519033.1:c.2721T>C	XP_011517335.1:p.Leu907=
NM_001354263.1:c.2856T>C	NP_001341192.1:p.Leu952=
XM_005266105.5:c.2868T>C	XP_005266162.1:p.Leu956=
XM_011519021.3:c.2886T>C	XP_011517323.1:p.Leu962=
XM_011519022.3:c.2883T>C	XP_011517324.1:p.Leu961=
XM_011519023.3:c.2865T>C	XP_011517325.1:p.Leu955=
XM_011519029.3:c.1308T>C	XP_011517331.1:p.Leu436=
XM_011519030.3:c.660T>C	XP_011517332.1:p.Leu220=
XM_017015134.1:c.2862T>C	XP_016870623.1:p.Leu954=
XM_017015136.2:c.2778T>C	XP_016870625.1:p.Leu926=
XM_017015137.1:c.2763T>C	XP_016870626.1:p.Leu921=
XM_017015138.1:c.2763T>C	XP_016870627.1:p.Leu921=
XM_024447674.1:c.2706T>C	XP_024303442.1:p.Leu902=
XM_024447675.1:c.2640T>C	XP_024303443.1:p.Leu880=
XM_024447676.1:c.2001T>C	XP_024303444.1:p.Leu667=
XM_024447677.1:c.2001T>C	XP_024303445.1:p.Leu667=
XM_024447680.1:c.2619T>C	XP_024303448.1:p.Leu873=
NM_024757.5:c.2877T>C MANE Select	NP_079033.4:p.Leu959=
NM_001354263.2:c.2856T>C	NP_001341192.1:p.Leu952=