Canonical Allele Identifier: CA5375160

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 797874
• ClinVar RCV Id: RCV000981354
• dbSNP Id: rs778529217
• ExAC: 9:140707874 C / T
• gnomAD v2: 9-140707874-C-T
• gnomAD v3: 9-137813422-C-T
• gnomAD v4: 9-137813422-C-T
• MyVariant Identifiers: chr9:g.140707874C>T (hg19) ; chr9:g.137813422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813422C>T , CM000671.2:g.137813422C>T	GRCh38
NC_000009.11:g.140707874C>T , CM000671.1:g.140707874C>T	GRCh37
NC_000009.10:g.139827695C>T	NCBI36
NG_011776.1:g.199431C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.3072C>T MANE Select	ENSP00000417980.1:p.Pro1024=
ENST00000637161.1:c.2979C>T	ENSP00000490328.1:p.Pro993=
ENST00000637261.1:c.3112C>T	ENSP00000490815.1:n.3112C>T
ENST00000637891.1:c.966C>T	ENSP00000490907.1:p.Pro322=
ENST00000460843.5:c.3072C>T	ENSP00000417980.1:p.Pro1024=
ENST00000462942.3:c.1929C>T	ENSP00000436107.1:p.Pro643=
ENST00000486164.5:c.759C>T
ENST00000488242.2:n.598C>T
NM_024757.4:c.3072C>T	NP_079033.4:p.Pro1024=
XM_005266105.3:c.3063C>T	XP_005266162.1:p.Pro1021=
XM_005266110.1:c.2979C>T	XP_005266167.1:p.Pro993=
XM_006717288.2:c.3054C>T	XP_006717351.1:p.Pro1018=
XM_011519021.1:c.3081C>T	XP_011517323.1:p.Pro1027=
XM_011519022.1:c.3078C>T	XP_011517324.1:p.Pro1026=
XM_011519023.1:c.3060C>T	XP_011517325.1:p.Pro1020=
XM_011519024.1:c.3003C>T	XP_011517326.1:p.Pro1001=
XM_011519025.1:c.2979C>T	XP_011517327.1:p.Pro993=
XM_011519026.1:c.2937C>T	XP_011517328.1:p.Pro979=
XM_011519029.1:c.1503C>T	XP_011517331.1:p.Pro501=
XM_011519030.1:c.855C>T	XP_011517332.1:p.Pro285=
XM_011519031.1:c.642C>T	XP_011517333.1:p.Pro214=
XM_011519032.1:c.642C>T	XP_011517334.1:p.Pro214=
XM_011519033.1:c.2916C>T	XP_011517335.1:p.Pro972=
NM_001354263.1:c.3051C>T	NP_001341192.1:p.Pro1017=
XM_005266105.5:c.3063C>T	XP_005266162.1:p.Pro1021=
XM_011519021.3:c.3081C>T	XP_011517323.1:p.Pro1027=
XM_011519022.3:c.3078C>T	XP_011517324.1:p.Pro1026=
XM_011519023.3:c.3060C>T	XP_011517325.1:p.Pro1020=
XM_011519029.3:c.1503C>T	XP_011517331.1:p.Pro501=
XM_011519030.3:c.855C>T	XP_011517332.1:p.Pro285=
XM_017015134.1:c.3057C>T	XP_016870623.1:p.Pro1019=
XM_017015136.2:c.2973C>T	XP_016870625.1:p.Pro991=
XM_017015137.1:c.2958C>T	XP_016870626.1:p.Pro986=
XM_017015138.1:c.2958C>T	XP_016870627.1:p.Pro986=
XM_024447674.1:c.2901C>T	XP_024303442.1:p.Pro967=
XM_024447675.1:c.2835C>T	XP_024303443.1:p.Pro945=
XM_024447676.1:c.2196C>T	XP_024303444.1:p.Pro732=
XM_024447677.1:c.2196C>T	XP_024303445.1:p.Pro732=
XM_024447680.1:c.2814C>T	XP_024303448.1:p.Pro938=
NM_024757.5:c.3072C>T MANE Select	NP_079033.4:p.Pro1024=
NM_001354263.2:c.3051C>T	NP_001341192.1:p.Pro1017=