Canonical Allele Identifier: CA201787766

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 580990
• ClinVar RCV Id: RCV000704689
• dbSNP Id: rs372072542
• gnomAD v2: 9-140652376-G-A
• gnomAD v3: 9-137757924-G-A
• gnomAD v4: 9-137757924-G-A
• MyVariant Identifiers: chr9:g.140652376G>A (hg19) ; chr9:g.137757924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757924G>A , CM000671.2:g.137757924G>A	GRCh38
NC_000009.11:g.140652376G>A , CM000671.1:g.140652376G>A	GRCh37
NC_000009.10:g.139772197G>A	NCBI36
NG_011776.1:g.143933G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1414G>A MANE Select	ENSP00000417980.1:p.Ala472Thr
ENST00000629335.2:c.1414G>A	ENSP00000490056.1:p.Ala472Thr
ENST00000636027.1:c.1300G>A	ENSP00000489961.1:p.Ala434Thr
ENST00000637161.1:c.1321G>A	ENSP00000490328.1:p.Ala441Thr
ENST00000637261.1:c.1454G>A	ENSP00000490815.1:n.1454G>A
ENST00000637977.1:c.1359G>A
ENST00000638071.1:c.1041G>A
ENST00000640639.1:c.583G>A	ENSP00000491823.1:p.Ala195Thr
ENST00000371394.6:c.*1149G>A	ENSP00000485945.1:n.*1149G>A
ENST00000460843.5:c.1414G>A	ENSP00000417980.1:p.Ala472Thr
ENST00000462484.5:c.1414G>A	ENSP00000417328.1:p.Ala472Thr
ENST00000462942.3:c.271G>A	ENSP00000436107.1:p.Ala91Thr
ENST00000465566.2:c.106G>A	ENSP00000486261.1:p.Ala36Thr
ENST00000629808.2:c.507G>A
NM_001145527.1:c.1414G>A	NP_001138999.1:p.Ala472Thr
NM_024757.4:c.1414G>A	NP_079033.4:p.Ala472Thr
XM_005266105.3:c.1405G>A	XP_005266162.1:p.Ala469Thr
XM_005266110.1:c.1321G>A	XP_005266167.1:p.Ala441Thr
XM_006717288.2:c.1396G>A	XP_006717351.1:p.Ala466Thr
XM_011519021.1:c.1423G>A	XP_011517323.1:p.Ala475Thr
XM_011519022.1:c.1420G>A	XP_011517324.1:p.Ala474Thr
XM_011519023.1:c.1402G>A	XP_011517325.1:p.Ala468Thr
XM_011519024.1:c.1345G>A	XP_011517326.1:p.Ala449Thr
XM_011519025.1:c.1321G>A	XP_011517327.1:p.Ala441Thr
XM_011519026.1:c.1423G>A	XP_011517328.1:p.Ala475Thr
XM_011519027.1:c.1423G>A	XP_011517329.1:p.Ala475Thr
XM_011519028.1:c.1423G>A	XP_011517330.1:p.Ala475Thr
XM_011519033.1:c.1402G>A	XP_011517335.1:p.Ala468Thr
NM_001354259.1:c.1321G>A	NP_001341188.1:p.Ala441Thr
NM_001354263.1:c.1393G>A	NP_001341192.1:p.Ala465Thr
NM_001354611.1:c.1414G>A	NP_001341540.1:p.Ala472Thr
NM_001354612.1:c.1321G>A	NP_001341541.1:p.Ala441Thr
XM_005266105.5:c.1405G>A	XP_005266162.1:p.Ala469Thr
XM_011519021.3:c.1423G>A	XP_011517323.1:p.Ala475Thr
XM_011519022.3:c.1420G>A	XP_011517324.1:p.Ala474Thr
XM_011519023.3:c.1402G>A	XP_011517325.1:p.Ala468Thr
XM_017015134.1:c.1399G>A	XP_016870623.1:p.Ala467Thr
XM_017015136.2:c.1315G>A	XP_016870625.1:p.Ala439Thr
XM_017015137.1:c.1300G>A	XP_016870626.1:p.Ala434Thr
XM_017015138.1:c.1300G>A	XP_016870627.1:p.Ala434Thr
XM_024447674.1:c.1243G>A	XP_024303442.1:p.Ala415Thr
XM_024447675.1:c.1321G>A	XP_024303443.1:p.Ala441Thr
XM_024447676.1:c.538G>A	XP_024303444.1:p.Ala180Thr
XM_024447677.1:c.538G>A	XP_024303445.1:p.Ala180Thr
XM_024447678.1:c.1321G>A	XP_024303446.1:p.Ala441Thr
XM_024447679.1:c.1321G>A	XP_024303447.1:p.Ala441Thr
XM_024447680.1:c.1300G>A	XP_024303448.1:p.Ala434Thr
NM_024757.5:c.1414G>A MANE Select	NP_079033.4:p.Ala472Thr
NM_001145527.2:c.1414G>A	NP_001138999.1:p.Ala472Thr
NM_001354259.2:c.1321G>A	NP_001341188.1:p.Ala441Thr
NM_001354263.2:c.1393G>A	NP_001341192.1:p.Ala465Thr
NM_001354611.2:c.1414G>A	NP_001341540.1:p.Ala472Thr
NM_001354612.2:c.1321G>A	NP_001341541.1:p.Ala441Thr