Canonical Allele Identifier: CA375793159

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813007-C-G
• MyVariant Identifiers: chr9:g.140707459C>G (hg19) ; chr9:g.137813007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813007C>G , CM000671.2:g.137813007C>G	GRCh38
NC_000009.11:g.140707459C>G , CM000671.1:g.140707459C>G	GRCh37
NC_000009.10:g.139827280C>G	NCBI36
NG_011776.1:g.199016C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2869C>G MANE Select	ENSP00000417980.1:p.Leu957Val
ENST00000636027.1:c.2755C>G	ENSP00000489961.1:p.Leu919Val
ENST00000637161.1:c.2776C>G	ENSP00000490328.1:p.Leu926Val
ENST00000637261.1:c.2909C>G	ENSP00000490815.1:n.2909C>G
ENST00000637891.1:c.763C>G	ENSP00000490907.1:p.Leu255Val
ENST00000460843.5:c.2869C>G	ENSP00000417980.1:p.Leu957Val
ENST00000462942.3:c.1726C>G	ENSP00000436107.1:p.Leu576Val
ENST00000486164.5:c.556C>G
ENST00000488242.2:n.395C>G
NM_024757.4:c.2869C>G	NP_079033.4:p.Leu957Val
XM_005266105.3:c.2860C>G	XP_005266162.1:p.Leu954Val
XM_005266110.1:c.2776C>G	XP_005266167.1:p.Leu926Val
XM_006717288.2:c.2851C>G	XP_006717351.1:p.Leu951Val
XM_011519021.1:c.2878C>G	XP_011517323.1:p.Leu960Val
XM_011519022.1:c.2875C>G	XP_011517324.1:p.Leu959Val
XM_011519023.1:c.2857C>G	XP_011517325.1:p.Leu953Val
XM_011519024.1:c.2800C>G	XP_011517326.1:p.Leu934Val
XM_011519025.1:c.2776C>G	XP_011517327.1:p.Leu926Val
XM_011519026.1:c.2734C>G	XP_011517328.1:p.Leu912Val
XM_011519029.1:c.1300C>G	XP_011517331.1:p.Leu434Val
XM_011519030.1:c.652C>G	XP_011517332.1:p.Leu218Val
XM_011519031.1:c.439C>G	XP_011517333.1:p.Leu147Val
XM_011519032.1:c.439C>G	XP_011517334.1:p.Leu147Val
XM_011519033.1:c.2713C>G	XP_011517335.1:p.Leu905Val
NM_001354263.1:c.2848C>G	NP_001341192.1:p.Leu950Val
XM_005266105.5:c.2860C>G	XP_005266162.1:p.Leu954Val
XM_011519021.3:c.2878C>G	XP_011517323.1:p.Leu960Val
XM_011519022.3:c.2875C>G	XP_011517324.1:p.Leu959Val
XM_011519023.3:c.2857C>G	XP_011517325.1:p.Leu953Val
XM_011519029.3:c.1300C>G	XP_011517331.1:p.Leu434Val
XM_011519030.3:c.652C>G	XP_011517332.1:p.Leu218Val
XM_017015134.1:c.2854C>G	XP_016870623.1:p.Leu952Val
XM_017015136.2:c.2770C>G	XP_016870625.1:p.Leu924Val
XM_017015137.1:c.2755C>G	XP_016870626.1:p.Leu919Val
XM_017015138.1:c.2755C>G	XP_016870627.1:p.Leu919Val
XM_024447674.1:c.2698C>G	XP_024303442.1:p.Leu900Val
XM_024447675.1:c.2632C>G	XP_024303443.1:p.Leu878Val
XM_024447676.1:c.1993C>G	XP_024303444.1:p.Leu665Val
XM_024447677.1:c.1993C>G	XP_024303445.1:p.Leu665Val
XM_024447680.1:c.2611C>G	XP_024303448.1:p.Leu871Val
NM_024757.5:c.2869C>G MANE Select	NP_079033.4:p.Leu957Val
NM_001354263.2:c.2848C>G	NP_001341192.1:p.Leu950Val