Canonical Allele Identifier: CA375793849

Gene: EHMT1

Linked Data

• dbSNP Id: rs1954653796
• gnomAD v3: 9-137813402-T-C
• gnomAD v4: 9-137813402-T-C
• MyVariant Identifiers: chr9:g.140707854T>C (hg19) ; chr9:g.137813402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813402T>C , CM000671.2:g.137813402T>C	GRCh38
NC_000009.11:g.140707854T>C , CM000671.1:g.140707854T>C	GRCh37
NC_000009.10:g.139827675T>C	NCBI36
NG_011776.1:g.199411T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3052T>C MANE Select	ENSP00000417980.1:p.Tyr1018His
ENST00000636027.1:c.2938T>C	ENSP00000489961.1:p.Tyr980His
ENST00000637161.1:c.2959T>C	ENSP00000490328.1:p.Tyr987His
ENST00000637261.1:c.3092T>C	ENSP00000490815.1:n.3092T>C
ENST00000637891.1:c.946T>C	ENSP00000490907.1:p.Tyr316His
ENST00000460843.5:c.3052T>C	ENSP00000417980.1:p.Tyr1018His
ENST00000462942.3:c.1909T>C	ENSP00000436107.1:p.Tyr637His
ENST00000486164.5:c.739T>C
ENST00000488242.2:n.578T>C
NM_024757.4:c.3052T>C	NP_079033.4:p.Tyr1018His
XM_005266105.3:c.3043T>C	XP_005266162.1:p.Tyr1015His
XM_005266110.1:c.2959T>C	XP_005266167.1:p.Tyr987His
XM_006717288.2:c.3034T>C	XP_006717351.1:p.Tyr1012His
XM_011519021.1:c.3061T>C	XP_011517323.1:p.Tyr1021His
XM_011519022.1:c.3058T>C	XP_011517324.1:p.Tyr1020His
XM_011519023.1:c.3040T>C	XP_011517325.1:p.Tyr1014His
XM_011519024.1:c.2983T>C	XP_011517326.1:p.Tyr995His
XM_011519025.1:c.2959T>C	XP_011517327.1:p.Tyr987His
XM_011519026.1:c.2917T>C	XP_011517328.1:p.Tyr973His
XM_011519029.1:c.1483T>C	XP_011517331.1:p.Tyr495His
XM_011519030.1:c.835T>C	XP_011517332.1:p.Tyr279His
XM_011519031.1:c.622T>C	XP_011517333.1:p.Tyr208His
XM_011519032.1:c.622T>C	XP_011517334.1:p.Tyr208His
XM_011519033.1:c.2896T>C	XP_011517335.1:p.Tyr966His
NM_001354263.1:c.3031T>C	NP_001341192.1:p.Tyr1011His
XM_005266105.5:c.3043T>C	XP_005266162.1:p.Tyr1015His
XM_011519021.3:c.3061T>C	XP_011517323.1:p.Tyr1021His
XM_011519022.3:c.3058T>C	XP_011517324.1:p.Tyr1020His
XM_011519023.3:c.3040T>C	XP_011517325.1:p.Tyr1014His
XM_011519029.3:c.1483T>C	XP_011517331.1:p.Tyr495His
XM_011519030.3:c.835T>C	XP_011517332.1:p.Tyr279His
XM_017015134.1:c.3037T>C	XP_016870623.1:p.Tyr1013His
XM_017015136.2:c.2953T>C	XP_016870625.1:p.Tyr985His
XM_017015137.1:c.2938T>C	XP_016870626.1:p.Tyr980His
XM_017015138.1:c.2938T>C	XP_016870627.1:p.Tyr980His
XM_024447674.1:c.2881T>C	XP_024303442.1:p.Tyr961His
XM_024447675.1:c.2815T>C	XP_024303443.1:p.Tyr939His
XM_024447676.1:c.2176T>C	XP_024303444.1:p.Tyr726His
XM_024447677.1:c.2176T>C	XP_024303445.1:p.Tyr726His
XM_024447680.1:c.2794T>C	XP_024303448.1:p.Tyr932His
NM_024757.5:c.3052T>C MANE Select	NP_079033.4:p.Tyr1018His
NM_001354263.2:c.3031T>C	NP_001341192.1:p.Tyr1011His