Canonical Allele Identifier: CA201800510

Gene: EHMT1

Linked Data

• dbSNP Id: rs999037148
• gnomAD v2: 9-140712784-C-G
• gnomAD v3: 9-137818332-C-G
• gnomAD v4: 9-137818332-C-G
• MyVariant Identifiers: chr9:g.140712784C>G (hg19) ; chr9:g.137818332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818332C>G , CM000671.2:g.137818332C>G	GRCh38
NC_000009.11:g.140712784C>G , CM000671.1:g.140712784C>G	GRCh37
NC_000009.10:g.139832605C>G	NCBI36
NG_011776.1:g.204341C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+194C>G MANE Select	ENSP00000417980.1:n.3540+194C>G
ENST00000636526.1:n.26+194C>G
ENST00000637161.1:c.3447+194C>G	ENSP00000490328.1:n.3447+194C>G
ENST00000637261.1:c.4114+194C>G	ENSP00000490815.1:n.4114+194C>G
ENST00000637748.1:n.521+194C>G
ENST00000637891.1:c.1614+194C>G	ENSP00000490907.1:n.1614+194C>G
ENST00000460843.5:c.3540+194C>G	ENSP00000417980.1:n.3540+194C>G
ENST00000462942.3:c.2397+194C>G	ENSP00000436107.1:n.2397+194C>G
ENST00000475564.5:n.1264+194C>G
ENST00000494249.5:n.893+194C>G
NM_024757.4:c.3540+194C>G	NP_079033.4:n.3540+194C>G
XM_005266105.3:c.3531+194C>G	XP_005266162.1:n.3531+194C>G
XM_005266110.1:c.3447+194C>G	XP_005266167.1:n.3447+194C>G
XM_006717288.2:c.3522+194C>G	XP_006717351.1:n.3522+194C>G
XM_011519021.1:c.3549+194C>G	XP_011517323.1:n.3549+194C>G
XM_011519022.1:c.3546+194C>G	XP_011517324.1:n.3546+194C>G
XM_011519023.1:c.3528+194C>G	XP_011517325.1:n.3528+194C>G
XM_011519024.1:c.3471+194C>G	XP_011517326.1:n.3471+194C>G
XM_011519025.1:c.3447+194C>G	XP_011517327.1:n.3447+194C>G
XM_011519026.1:c.3405+194C>G	XP_011517328.1:n.3405+194C>G
XM_011519029.1:c.1971+194C>G	XP_011517331.1:n.1971+194C>G
XM_011519030.1:c.1323+194C>G	XP_011517332.1:n.1323+194C>G
XM_011519031.1:c.1110+194C>G	XP_011517333.1:n.1110+194C>G
XM_011519032.1:c.1110+194C>G	XP_011517334.1:n.1110+194C>G
XM_011519033.1:c.3384+194C>G	XP_011517335.1:n.3384+194C>G
XR_930459.1:n.5297-3770G>C
NM_001354263.1:c.3519+194C>G	NP_001341192.1:n.3519+194C>G
XM_005266105.5:c.3531+194C>G	XP_005266162.1:n.3531+194C>G
XM_011519021.3:c.3549+194C>G	XP_011517323.1:n.3549+194C>G
XM_011519022.3:c.3546+194C>G	XP_011517324.1:n.3546+194C>G
XM_011519023.3:c.3528+194C>G	XP_011517325.1:n.3528+194C>G
XM_011519029.3:c.1971+194C>G	XP_011517331.1:n.1971+194C>G
XM_011519030.3:c.1323+194C>G	XP_011517332.1:n.1323+194C>G
XM_017015134.1:c.3525+194C>G	XP_016870623.1:n.3525+194C>G
XM_017015136.2:c.3441+194C>G	XP_016870625.1:n.3441+194C>G
XM_017015137.1:c.3426+194C>G	XP_016870626.1:n.3426+194C>G
XM_017015138.1:c.3426+194C>G	XP_016870627.1:n.3426+194C>G
XM_024447674.1:c.3369+194C>G	XP_024303442.1:n.3369+194C>G
XM_024447675.1:c.3303+194C>G	XP_024303443.1:n.3303+194C>G
XM_024447676.1:c.2664+194C>G	XP_024303444.1:n.2664+194C>G
XM_024447677.1:c.2664+194C>G	XP_024303445.1:n.2664+194C>G
XM_024447680.1:c.3282+194C>G	XP_024303448.1:n.3282+194C>G
NM_024757.5:c.3540+194C>G MANE Select	NP_079033.4:n.3540+194C>G
NM_001354263.2:c.3519+194C>G	NP_001341192.1:n.3519+194C>G