Canonical Allele Identifier: CA5374760

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 425474
• ClinVar RCV Id: RCV000487651 ; RCV001034524
• dbSNP Id: rs188452845
• ExAC: 9:140671229 G / A
• gnomAD v2: 9-140671229-G-A
• gnomAD v3: 9-137776777-G-A
• gnomAD v4: 9-137776777-G-A
• COSMIC: COSM1205091 ; COSM1205092
• MyVariant Identifiers: chr9:g.140671229G>A (hg19) ; chr9:g.137776777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776777G>A , CM000671.2:g.137776777G>A	GRCh38
NC_000009.11:g.140671229G>A , CM000671.1:g.140671229G>A	GRCh37
NC_000009.10:g.139791050G>A	NCBI36
NG_011776.1:g.162786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1951G>A MANE Select	ENSP00000417980.1:p.Val651Met
ENST00000636027.1:c.1837G>A	ENSP00000489961.1:p.Val613Met
ENST00000637161.1:c.1858G>A	ENSP00000490328.1:p.Val620Met
ENST00000637261.1:c.1991G>A	ENSP00000490815.1:n.1991G>A
ENST00000638071.1:c.1578G>A
ENST00000640639.1:c.1120G>A	ENSP00000491823.1:p.Val374Met
ENST00000371394.6:c.*1686G>A	ENSP00000485945.1:n.*1686G>A
ENST00000460843.5:c.1951G>A	ENSP00000417980.1:p.Val651Met
ENST00000462484.5:c.1951G>A	ENSP00000417328.1:p.Val651Met
ENST00000462942.3:c.808G>A	ENSP00000436107.1:p.Val270Met
ENST00000465566.2:c.499G>A	ENSP00000486261.1:p.Val167Met
ENST00000626603.1:n.1672C>T
NM_001145527.1:c.1951G>A	NP_001138999.1:p.Val651Met
NM_024757.4:c.1951G>A	NP_079033.4:p.Val651Met
XM_005266105.3:c.1942G>A	XP_005266162.1:p.Val648Met
XM_005266110.1:c.1858G>A	XP_005266167.1:p.Val620Met
XM_006717288.2:c.1933G>A	XP_006717351.1:p.Val645Met
XM_011519021.1:c.1960G>A	XP_011517323.1:p.Val654Met
XM_011519022.1:c.1957G>A	XP_011517324.1:p.Val653Met
XM_011519023.1:c.1939G>A	XP_011517325.1:p.Val647Met
XM_011519024.1:c.1882G>A	XP_011517326.1:p.Val628Met
XM_011519025.1:c.1858G>A	XP_011517327.1:p.Val620Met
XM_011519026.1:c.1816G>A	XP_011517328.1:p.Val606Met
XM_011519027.1:c.1960G>A	XP_011517329.1:p.Val654Met
XM_011519028.1:c.1960G>A	XP_011517330.1:p.Val654Met
XM_011519029.1:c.382G>A	XP_011517331.1:p.Val128Met
XM_011519033.1:c.1795G>A	XP_011517335.1:p.Val599Met
NM_001354259.1:c.1858G>A	NP_001341188.1:p.Val620Met
NM_001354263.1:c.1930G>A	NP_001341192.1:p.Val644Met
XM_005266105.5:c.1942G>A	XP_005266162.1:p.Val648Met
XM_011519021.3:c.1960G>A	XP_011517323.1:p.Val654Met
XM_011519022.3:c.1957G>A	XP_011517324.1:p.Val653Met
XM_011519023.3:c.1939G>A	XP_011517325.1:p.Val647Met
XM_011519029.3:c.382G>A	XP_011517331.1:p.Val128Met
XM_017015134.1:c.1936G>A	XP_016870623.1:p.Val646Met
XM_017015136.2:c.1852G>A	XP_016870625.1:p.Val618Met
XM_017015137.1:c.1837G>A	XP_016870626.1:p.Val613Met
XM_017015138.1:c.1837G>A	XP_016870627.1:p.Val613Met
XM_024447674.1:c.1780G>A	XP_024303442.1:p.Val594Met
XM_024447675.1:c.1714G>A	XP_024303443.1:p.Val572Met
XM_024447676.1:c.1075G>A	XP_024303444.1:p.Val359Met
XM_024447677.1:c.1075G>A	XP_024303445.1:p.Val359Met
XM_024447678.1:c.1858G>A	XP_024303446.1:p.Val620Met
XM_024447679.1:c.1858G>A	XP_024303447.1:p.Val620Met
XM_024447680.1:c.1693G>A	XP_024303448.1:p.Val565Met
NM_024757.5:c.1951G>A MANE Select	NP_079033.4:p.Val651Met
NM_001145527.2:c.1951G>A	NP_001138999.1:p.Val651Met
NM_001354259.2:c.1858G>A	NP_001341188.1:p.Val620Met
NM_001354263.2:c.1930G>A	NP_001341192.1:p.Val644Met