Canonical Allele Identifier: CA209801

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 210927
• ClinVar RCV Id: RCV000195163 ; RCV003609150
• dbSNP Id: rs797045556
• gnomAD v4: 9-137834920-C-T
• MyVariant Identifiers: chr9:g.140729372C>T (hg19) ; chr9:g.137834920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137834920C>T , CM000671.2:g.137834920C>T	GRCh38
NC_000009.11:g.140729372C>T , CM000671.1:g.140729372C>T	GRCh37
NC_000009.10:g.139849193C>T	NCBI36
NG_011776.1:g.220929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3864C>T MANE Select	ENSP00000417980.1:p.Asp1288=
ENST00000637161.1:c.3771C>T	ENSP00000490328.1:p.Asp1257=
ENST00000637748.1:n.845C>T
ENST00000460843.5:c.3864C>T	ENSP00000417980.1:p.Asp1288=
ENST00000462942.3:c.2398-11640C>T	ENSP00000436107.1:n.2398-11640C>T
ENST00000472849.1:n.636C>T
ENST00000475564.5:n.1588C>T
ENST00000475704.2:n.594C>T
ENST00000494249.5:n.1217C>T
NM_024757.4:c.3864C>T	NP_079033.4:p.Asp1288=
XM_005266105.3:c.3855C>T	XP_005266162.1:p.Asp1285=
XM_005266110.1:c.3771C>T	XP_005266167.1:p.Asp1257=
XM_006717288.2:c.3846C>T	XP_006717351.1:p.Asp1282=
XM_011519021.1:c.3873C>T	XP_011517323.1:p.Asp1291=
XM_011519022.1:c.3870C>T	XP_011517324.1:p.Asp1290=
XM_011519023.1:c.3852C>T	XP_011517325.1:p.Asp1284=
XM_011519024.1:c.3795C>T	XP_011517326.1:p.Asp1265=
XM_011519025.1:c.3771C>T	XP_011517327.1:p.Asp1257=
XM_011519026.1:c.3729C>T	XP_011517328.1:p.Asp1243=
XM_011519029.1:c.2295C>T	XP_011517331.1:p.Asp765=
XM_011519030.1:c.1647C>T	XP_011517332.1:p.Asp549=
XM_011519031.1:c.1434C>T	XP_011517333.1:p.Asp478=
XM_011519032.1:c.1434C>T	XP_011517334.1:p.Asp478=
XM_011519033.1:c.3708C>T	XP_011517335.1:p.Asp1236=
NM_001354263.1:c.3843C>T	NP_001341192.1:p.Asp1281=
XM_005266105.5:c.3855C>T	XP_005266162.1:p.Asp1285=
XM_011519021.3:c.3873C>T	XP_011517323.1:p.Asp1291=
XM_011519022.3:c.3870C>T	XP_011517324.1:p.Asp1290=
XM_011519023.3:c.3852C>T	XP_011517325.1:p.Asp1284=
XM_011519029.3:c.2295C>T	XP_011517331.1:p.Asp765=
XM_011519030.3:c.1647C>T	XP_011517332.1:p.Asp549=
XM_017015134.1:c.3849C>T	XP_016870623.1:p.Asp1283=
XM_017015136.2:c.3765C>T	XP_016870625.1:p.Asp1255=
XM_017015137.1:c.3750C>T	XP_016870626.1:p.Asp1250=
XM_017015138.1:c.3750C>T	XP_016870627.1:p.Asp1250=
XM_024447674.1:c.3693C>T	XP_024303442.1:p.Asp1231=
XM_024447675.1:c.3627C>T	XP_024303443.1:p.Asp1209=
XM_024447676.1:c.2988C>T	XP_024303444.1:p.Asp996=
XM_024447677.1:c.2988C>T	XP_024303445.1:p.Asp996=
XM_024447680.1:c.3606C>T	XP_024303448.1:p.Asp1202=
NM_024757.5:c.3864C>T MANE Select	NP_079033.4:p.Asp1288=
NM_001354263.2:c.3843C>T	NP_001341192.1:p.Asp1281=