Canonical Allele Identifier: CA375793697

Gene: EHMT1

Linked Data

• dbSNP Id: rs1466565407
• gnomAD v2: 9-140707602-C-A
• gnomAD v4: 9-137813150-C-A
• MyVariant Identifiers: chr9:g.140707602C>A (hg19) ; chr9:g.137813150C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813150C>A , CM000671.2:g.137813150C>A	GRCh38
NC_000009.11:g.140707602C>A , CM000671.1:g.140707602C>A	GRCh37
NC_000009.10:g.139827423C>A	NCBI36
NG_011776.1:g.199159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3012C>A MANE Select	ENSP00000417980.1:p.Ser1004Arg
ENST00000636027.1:c.2898C>A	ENSP00000489961.1:p.Ser966Arg
ENST00000637161.1:c.2919C>A	ENSP00000490328.1:p.Ser973Arg
ENST00000637261.1:c.3052C>A	ENSP00000490815.1:n.3052C>A
ENST00000637891.1:c.906C>A	ENSP00000490907.1:p.Ser302Arg
ENST00000460843.5:c.3012C>A	ENSP00000417980.1:p.Ser1004Arg
ENST00000462942.3:c.1869C>A	ENSP00000436107.1:p.Ser623Arg
ENST00000486164.5:c.699C>A
ENST00000488242.2:n.538C>A
NM_024757.4:c.3012C>A	NP_079033.4:p.Ser1004Arg
XM_005266105.3:c.3003C>A	XP_005266162.1:p.Ser1001Arg
XM_005266110.1:c.2919C>A	XP_005266167.1:p.Ser973Arg
XM_006717288.2:c.2994C>A	XP_006717351.1:p.Ser998Arg
XM_011519021.1:c.3021C>A	XP_011517323.1:p.Ser1007Arg
XM_011519022.1:c.3018C>A	XP_011517324.1:p.Ser1006Arg
XM_011519023.1:c.3000C>A	XP_011517325.1:p.Ser1000Arg
XM_011519024.1:c.2943C>A	XP_011517326.1:p.Ser981Arg
XM_011519025.1:c.2919C>A	XP_011517327.1:p.Ser973Arg
XM_011519026.1:c.2877C>A	XP_011517328.1:p.Ser959Arg
XM_011519029.1:c.1443C>A	XP_011517331.1:p.Ser481Arg
XM_011519030.1:c.795C>A	XP_011517332.1:p.Ser265Arg
XM_011519031.1:c.582C>A	XP_011517333.1:p.Ser194Arg
XM_011519032.1:c.582C>A	XP_011517334.1:p.Ser194Arg
XM_011519033.1:c.2856C>A	XP_011517335.1:p.Ser952Arg
NM_001354263.1:c.2991C>A	NP_001341192.1:p.Ser997Arg
XM_005266105.5:c.3003C>A	XP_005266162.1:p.Ser1001Arg
XM_011519021.3:c.3021C>A	XP_011517323.1:p.Ser1007Arg
XM_011519022.3:c.3018C>A	XP_011517324.1:p.Ser1006Arg
XM_011519023.3:c.3000C>A	XP_011517325.1:p.Ser1000Arg
XM_011519029.3:c.1443C>A	XP_011517331.1:p.Ser481Arg
XM_011519030.3:c.795C>A	XP_011517332.1:p.Ser265Arg
XM_017015134.1:c.2997C>A	XP_016870623.1:p.Ser999Arg
XM_017015136.2:c.2913C>A	XP_016870625.1:p.Ser971Arg
XM_017015137.1:c.2898C>A	XP_016870626.1:p.Ser966Arg
XM_017015138.1:c.2898C>A	XP_016870627.1:p.Ser966Arg
XM_024447674.1:c.2841C>A	XP_024303442.1:p.Ser947Arg
XM_024447675.1:c.2775C>A	XP_024303443.1:p.Ser925Arg
XM_024447676.1:c.2136C>A	XP_024303444.1:p.Ser712Arg
XM_024447677.1:c.2136C>A	XP_024303445.1:p.Ser712Arg
XM_024447680.1:c.2754C>A	XP_024303448.1:p.Ser918Arg
NM_024757.5:c.3012C>A MANE Select	NP_079033.4:p.Ser1004Arg
NM_001354263.2:c.2991C>A	NP_001341192.1:p.Ser997Arg