Canonical Allele Identifier: CA5375121

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 943071
• ClinVar RCV Id: RCV001213182
• dbSNP Id: rs758862496
• ExAC: 9:140707583 C / T
• gnomAD v2: 9-140707583-C-T
• gnomAD v4: 9-137813131-C-T
• MyVariant Identifiers: chr9:g.140707583C>T (hg19) ; chr9:g.137813131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813131C>T , CM000671.2:g.137813131C>T	GRCh38
NC_000009.11:g.140707583C>T , CM000671.1:g.140707583C>T	GRCh37
NC_000009.10:g.139827404C>T	NCBI36
NG_011776.1:g.199140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2993C>T MANE Select	ENSP00000417980.1:p.Ser998Leu
ENST00000636027.1:c.2879C>T	ENSP00000489961.1:p.Ser960Leu
ENST00000637161.1:c.2900C>T	ENSP00000490328.1:p.Ser967Leu
ENST00000637261.1:c.3033C>T	ENSP00000490815.1:n.3033C>T
ENST00000637891.1:c.887C>T	ENSP00000490907.1:p.Ser296Leu
ENST00000460843.5:c.2993C>T	ENSP00000417980.1:p.Ser998Leu
ENST00000462942.3:c.1850C>T	ENSP00000436107.1:p.Ser617Leu
ENST00000486164.5:c.680C>T
ENST00000488242.2:n.519C>T
NM_024757.4:c.2993C>T	NP_079033.4:p.Ser998Leu
XM_005266105.3:c.2984C>T	XP_005266162.1:p.Ser995Leu
XM_005266110.1:c.2900C>T	XP_005266167.1:p.Ser967Leu
XM_006717288.2:c.2975C>T	XP_006717351.1:p.Ser992Leu
XM_011519021.1:c.3002C>T	XP_011517323.1:p.Ser1001Leu
XM_011519022.1:c.2999C>T	XP_011517324.1:p.Ser1000Leu
XM_011519023.1:c.2981C>T	XP_011517325.1:p.Ser994Leu
XM_011519024.1:c.2924C>T	XP_011517326.1:p.Ser975Leu
XM_011519025.1:c.2900C>T	XP_011517327.1:p.Ser967Leu
XM_011519026.1:c.2858C>T	XP_011517328.1:p.Ser953Leu
XM_011519029.1:c.1424C>T	XP_011517331.1:p.Ser475Leu
XM_011519030.1:c.776C>T	XP_011517332.1:p.Ser259Leu
XM_011519031.1:c.563C>T	XP_011517333.1:p.Ser188Leu
XM_011519032.1:c.563C>T	XP_011517334.1:p.Ser188Leu
XM_011519033.1:c.2837C>T	XP_011517335.1:p.Ser946Leu
NM_001354263.1:c.2972C>T	NP_001341192.1:p.Ser991Leu
XM_005266105.5:c.2984C>T	XP_005266162.1:p.Ser995Leu
XM_011519021.3:c.3002C>T	XP_011517323.1:p.Ser1001Leu
XM_011519022.3:c.2999C>T	XP_011517324.1:p.Ser1000Leu
XM_011519023.3:c.2981C>T	XP_011517325.1:p.Ser994Leu
XM_011519029.3:c.1424C>T	XP_011517331.1:p.Ser475Leu
XM_011519030.3:c.776C>T	XP_011517332.1:p.Ser259Leu
XM_017015134.1:c.2978C>T	XP_016870623.1:p.Ser993Leu
XM_017015136.2:c.2894C>T	XP_016870625.1:p.Ser965Leu
XM_017015137.1:c.2879C>T	XP_016870626.1:p.Ser960Leu
XM_017015138.1:c.2879C>T	XP_016870627.1:p.Ser960Leu
XM_024447674.1:c.2822C>T	XP_024303442.1:p.Ser941Leu
XM_024447675.1:c.2756C>T	XP_024303443.1:p.Ser919Leu
XM_024447676.1:c.2117C>T	XP_024303444.1:p.Ser706Leu
XM_024447677.1:c.2117C>T	XP_024303445.1:p.Ser706Leu
XM_024447680.1:c.2735C>T	XP_024303448.1:p.Ser912Leu
NM_024757.5:c.2993C>T MANE Select	NP_079033.4:p.Ser998Leu
NM_001354263.2:c.2972C>T	NP_001341192.1:p.Ser991Leu