Canonical Allele Identifier: CA201843824

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1957742
• ClinVar RCV Id: RCV002725284
• dbSNP Id: rs1031471908
• gnomAD v3: 9-137813494-C-T
• gnomAD v4: 9-137813494-C-T
• MyVariant Identifiers: chr9:g.140707946C>T (hg19) ; chr9:g.137813494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813494C>T , CM000671.2:g.137813494C>T	GRCh38
NC_000009.11:g.140707946C>T , CM000671.1:g.140707946C>T	GRCh37
NC_000009.10:g.139827767C>T	NCBI36
NG_011776.1:g.199503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3144C>T MANE Select	ENSP00000417980.1:p.Ser1048=
ENST00000637161.1:c.3051C>T	ENSP00000490328.1:p.Ser1017=
ENST00000637261.1:c.3184C>T	ENSP00000490815.1:n.3184C>T
ENST00000637891.1:c.1038C>T	ENSP00000490907.1:p.Ser346=
ENST00000460843.5:c.3144C>T	ENSP00000417980.1:p.Ser1048=
ENST00000462942.3:c.2001C>T	ENSP00000436107.1:p.Ser667=
ENST00000483653.1:n.4C>T
ENST00000488242.2:n.670C>T
NM_024757.4:c.3144C>T	NP_079033.4:p.Ser1048=
XM_005266105.3:c.3135C>T	XP_005266162.1:p.Ser1045=
XM_005266110.1:c.3051C>T	XP_005266167.1:p.Ser1017=
XM_006717288.2:c.3126C>T	XP_006717351.1:p.Ser1042=
XM_011519021.1:c.3153C>T	XP_011517323.1:p.Ser1051=
XM_011519022.1:c.3150C>T	XP_011517324.1:p.Ser1050=
XM_011519023.1:c.3132C>T	XP_011517325.1:p.Ser1044=
XM_011519024.1:c.3075C>T	XP_011517326.1:p.Ser1025=
XM_011519025.1:c.3051C>T	XP_011517327.1:p.Ser1017=
XM_011519026.1:c.3009C>T	XP_011517328.1:p.Ser1003=
XM_011519029.1:c.1575C>T	XP_011517331.1:p.Ser525=
XM_011519030.1:c.927C>T	XP_011517332.1:p.Ser309=
XM_011519031.1:c.714C>T	XP_011517333.1:p.Ser238=
XM_011519032.1:c.714C>T	XP_011517334.1:p.Ser238=
XM_011519033.1:c.2988C>T	XP_011517335.1:p.Ser996=
NM_001354263.1:c.3123C>T	NP_001341192.1:p.Ser1041=
XM_005266105.5:c.3135C>T	XP_005266162.1:p.Ser1045=
XM_011519021.3:c.3153C>T	XP_011517323.1:p.Ser1051=
XM_011519022.3:c.3150C>T	XP_011517324.1:p.Ser1050=
XM_011519023.3:c.3132C>T	XP_011517325.1:p.Ser1044=
XM_011519029.3:c.1575C>T	XP_011517331.1:p.Ser525=
XM_011519030.3:c.927C>T	XP_011517332.1:p.Ser309=
XM_017015134.1:c.3129C>T	XP_016870623.1:p.Ser1043=
XM_017015136.2:c.3045C>T	XP_016870625.1:p.Ser1015=
XM_017015137.1:c.3030C>T	XP_016870626.1:p.Ser1010=
XM_017015138.1:c.3030C>T	XP_016870627.1:p.Ser1010=
XM_024447674.1:c.2973C>T	XP_024303442.1:p.Ser991=
XM_024447675.1:c.2907C>T	XP_024303443.1:p.Ser969=
XM_024447676.1:c.2268C>T	XP_024303444.1:p.Ser756=
XM_024447677.1:c.2268C>T	XP_024303445.1:p.Ser756=
XM_024447680.1:c.2886C>T	XP_024303448.1:p.Ser962=
NM_024757.5:c.3144C>T MANE Select	NP_079033.4:p.Ser1048=
NM_001354263.2:c.3123C>T	NP_001341192.1:p.Ser1041=