Canonical Allele Identifier: CA375794437

Gene: EHMT1

Linked Data

• dbSNP Id: rs754125586
• gnomAD v3: 9-137813490-C-T
• gnomAD v4: 9-137813490-C-T
• MyVariant Identifiers: chr9:g.140707942C>T (hg19) ; chr9:g.137813490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813490C>T , CM000671.2:g.137813490C>T	GRCh38
NC_000009.11:g.140707942C>T , CM000671.1:g.140707942C>T	GRCh37
NC_000009.10:g.139827763C>T	NCBI36
NG_011776.1:g.199499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3140C>T MANE Select	ENSP00000417980.1:p.Thr1047Met
ENST00000637161.1:c.3047C>T	ENSP00000490328.1:p.Thr1016Met
ENST00000637261.1:c.3180C>T	ENSP00000490815.1:n.3180C>T
ENST00000637891.1:c.1034C>T	ENSP00000490907.1:p.Thr345Met
ENST00000460843.5:c.3140C>T	ENSP00000417980.1:p.Thr1047Met
ENST00000462942.3:c.1997C>T	ENSP00000436107.1:p.Thr666Met
ENST00000488242.2:n.666C>T
NM_024757.4:c.3140C>T	NP_079033.4:p.Thr1047Met
XM_005266105.3:c.3131C>T	XP_005266162.1:p.Thr1044Met
XM_005266110.1:c.3047C>T	XP_005266167.1:p.Thr1016Met
XM_006717288.2:c.3122C>T	XP_006717351.1:p.Thr1041Met
XM_011519021.1:c.3149C>T	XP_011517323.1:p.Thr1050Met
XM_011519022.1:c.3146C>T	XP_011517324.1:p.Thr1049Met
XM_011519023.1:c.3128C>T	XP_011517325.1:p.Thr1043Met
XM_011519024.1:c.3071C>T	XP_011517326.1:p.Thr1024Met
XM_011519025.1:c.3047C>T	XP_011517327.1:p.Thr1016Met
XM_011519026.1:c.3005C>T	XP_011517328.1:p.Thr1002Met
XM_011519029.1:c.1571C>T	XP_011517331.1:p.Thr524Met
XM_011519030.1:c.923C>T	XP_011517332.1:p.Thr308Met
XM_011519031.1:c.710C>T	XP_011517333.1:p.Thr237Met
XM_011519032.1:c.710C>T	XP_011517334.1:p.Thr237Met
XM_011519033.1:c.2984C>T	XP_011517335.1:p.Thr995Met
NM_001354263.1:c.3119C>T	NP_001341192.1:p.Thr1040Met
XM_005266105.5:c.3131C>T	XP_005266162.1:p.Thr1044Met
XM_011519021.3:c.3149C>T	XP_011517323.1:p.Thr1050Met
XM_011519022.3:c.3146C>T	XP_011517324.1:p.Thr1049Met
XM_011519023.3:c.3128C>T	XP_011517325.1:p.Thr1043Met
XM_011519029.3:c.1571C>T	XP_011517331.1:p.Thr524Met
XM_011519030.3:c.923C>T	XP_011517332.1:p.Thr308Met
XM_017015134.1:c.3125C>T	XP_016870623.1:p.Thr1042Met
XM_017015136.2:c.3041C>T	XP_016870625.1:p.Thr1014Met
XM_017015137.1:c.3026C>T	XP_016870626.1:p.Thr1009Met
XM_017015138.1:c.3026C>T	XP_016870627.1:p.Thr1009Met
XM_024447674.1:c.2969C>T	XP_024303442.1:p.Thr990Met
XM_024447675.1:c.2903C>T	XP_024303443.1:p.Thr968Met
XM_024447676.1:c.2264C>T	XP_024303444.1:p.Thr755Met
XM_024447677.1:c.2264C>T	XP_024303445.1:p.Thr755Met
XM_024447680.1:c.2882C>T	XP_024303448.1:p.Thr961Met
NM_024757.5:c.3140C>T MANE Select	NP_079033.4:p.Thr1047Met
NM_001354263.2:c.3119C>T	NP_001341192.1:p.Thr1040Met