Canonical Allele Identifier: CA375793244

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813028-G-C
• MyVariant Identifiers: chr9:g.140707480G>C (hg19) ; chr9:g.137813028G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813028G>C , CM000671.2:g.137813028G>C	GRCh38
NC_000009.11:g.140707480G>C , CM000671.1:g.140707480G>C	GRCh37
NC_000009.10:g.139827301G>C	NCBI36
NG_011776.1:g.199037G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2890G>C MANE Select	ENSP00000417980.1:p.Asp964His
ENST00000636027.1:c.2776G>C	ENSP00000489961.1:p.Asp926His
ENST00000637161.1:c.2797G>C	ENSP00000490328.1:p.Asp933His
ENST00000637261.1:c.2930G>C	ENSP00000490815.1:n.2930G>C
ENST00000637891.1:c.784G>C	ENSP00000490907.1:p.Asp262His
ENST00000460843.5:c.2890G>C	ENSP00000417980.1:p.Asp964His
ENST00000462942.3:c.1747G>C	ENSP00000436107.1:p.Asp583His
ENST00000486164.5:c.577G>C
ENST00000488242.2:n.416G>C
NM_024757.4:c.2890G>C	NP_079033.4:p.Asp964His
XM_005266105.3:c.2881G>C	XP_005266162.1:p.Asp961His
XM_005266110.1:c.2797G>C	XP_005266167.1:p.Asp933His
XM_006717288.2:c.2872G>C	XP_006717351.1:p.Asp958His
XM_011519021.1:c.2899G>C	XP_011517323.1:p.Asp967His
XM_011519022.1:c.2896G>C	XP_011517324.1:p.Asp966His
XM_011519023.1:c.2878G>C	XP_011517325.1:p.Asp960His
XM_011519024.1:c.2821G>C	XP_011517326.1:p.Asp941His
XM_011519025.1:c.2797G>C	XP_011517327.1:p.Asp933His
XM_011519026.1:c.2755G>C	XP_011517328.1:p.Asp919His
XM_011519029.1:c.1321G>C	XP_011517331.1:p.Asp441His
XM_011519030.1:c.673G>C	XP_011517332.1:p.Asp225His
XM_011519031.1:c.460G>C	XP_011517333.1:p.Asp154His
XM_011519032.1:c.460G>C	XP_011517334.1:p.Asp154His
XM_011519033.1:c.2734G>C	XP_011517335.1:p.Asp912His
NM_001354263.1:c.2869G>C	NP_001341192.1:p.Asp957His
XM_005266105.5:c.2881G>C	XP_005266162.1:p.Asp961His
XM_011519021.3:c.2899G>C	XP_011517323.1:p.Asp967His
XM_011519022.3:c.2896G>C	XP_011517324.1:p.Asp966His
XM_011519023.3:c.2878G>C	XP_011517325.1:p.Asp960His
XM_011519029.3:c.1321G>C	XP_011517331.1:p.Asp441His
XM_011519030.3:c.673G>C	XP_011517332.1:p.Asp225His
XM_017015134.1:c.2875G>C	XP_016870623.1:p.Asp959His
XM_017015136.2:c.2791G>C	XP_016870625.1:p.Asp931His
XM_017015137.1:c.2776G>C	XP_016870626.1:p.Asp926His
XM_017015138.1:c.2776G>C	XP_016870627.1:p.Asp926His
XM_024447674.1:c.2719G>C	XP_024303442.1:p.Asp907His
XM_024447675.1:c.2653G>C	XP_024303443.1:p.Asp885His
XM_024447676.1:c.2014G>C	XP_024303444.1:p.Asp672His
XM_024447677.1:c.2014G>C	XP_024303445.1:p.Asp672His
XM_024447680.1:c.2632G>C	XP_024303448.1:p.Asp878His
NM_024757.5:c.2890G>C MANE Select	NP_079033.4:p.Asp964His
NM_001354263.2:c.2869G>C	NP_001341192.1:p.Asp957His