Canonical Allele Identifier: CA375793585

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 851268
• ClinVar RCV Id: RCV001055627
• dbSNP Id: rs1954625494
• gnomAD v4: 9-137813112-A-G
• MyVariant Identifiers: chr9:g.140707564A>G (hg19) ; chr9:g.137813112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813112A>G , CM000671.2:g.137813112A>G	GRCh38
NC_000009.11:g.140707564A>G , CM000671.1:g.140707564A>G	GRCh37
NC_000009.10:g.139827385A>G	NCBI36
NG_011776.1:g.199121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2974A>G MANE Select	ENSP00000417980.1:p.Ser992Gly
ENST00000636027.1:c.2860A>G	ENSP00000489961.1:p.Ser954Gly
ENST00000637161.1:c.2881A>G	ENSP00000490328.1:p.Ser961Gly
ENST00000637261.1:c.3014A>G	ENSP00000490815.1:n.3014A>G
ENST00000637891.1:c.868A>G	ENSP00000490907.1:p.Ser290Gly
ENST00000460843.5:c.2974A>G	ENSP00000417980.1:p.Ser992Gly
ENST00000462942.3:c.1831A>G	ENSP00000436107.1:p.Ser611Gly
ENST00000486164.5:c.661A>G
ENST00000488242.2:n.500A>G
NM_024757.4:c.2974A>G	NP_079033.4:p.Ser992Gly
XM_005266105.3:c.2965A>G	XP_005266162.1:p.Ser989Gly
XM_005266110.1:c.2881A>G	XP_005266167.1:p.Ser961Gly
XM_006717288.2:c.2956A>G	XP_006717351.1:p.Ser986Gly
XM_011519021.1:c.2983A>G	XP_011517323.1:p.Ser995Gly
XM_011519022.1:c.2980A>G	XP_011517324.1:p.Ser994Gly
XM_011519023.1:c.2962A>G	XP_011517325.1:p.Ser988Gly
XM_011519024.1:c.2905A>G	XP_011517326.1:p.Ser969Gly
XM_011519025.1:c.2881A>G	XP_011517327.1:p.Ser961Gly
XM_011519026.1:c.2839A>G	XP_011517328.1:p.Ser947Gly
XM_011519029.1:c.1405A>G	XP_011517331.1:p.Ser469Gly
XM_011519030.1:c.757A>G	XP_011517332.1:p.Ser253Gly
XM_011519031.1:c.544A>G	XP_011517333.1:p.Ser182Gly
XM_011519032.1:c.544A>G	XP_011517334.1:p.Ser182Gly
XM_011519033.1:c.2818A>G	XP_011517335.1:p.Ser940Gly
NM_001354263.1:c.2953A>G	NP_001341192.1:p.Ser985Gly
XM_005266105.5:c.2965A>G	XP_005266162.1:p.Ser989Gly
XM_011519021.3:c.2983A>G	XP_011517323.1:p.Ser995Gly
XM_011519022.3:c.2980A>G	XP_011517324.1:p.Ser994Gly
XM_011519023.3:c.2962A>G	XP_011517325.1:p.Ser988Gly
XM_011519029.3:c.1405A>G	XP_011517331.1:p.Ser469Gly
XM_011519030.3:c.757A>G	XP_011517332.1:p.Ser253Gly
XM_017015134.1:c.2959A>G	XP_016870623.1:p.Ser987Gly
XM_017015136.2:c.2875A>G	XP_016870625.1:p.Ser959Gly
XM_017015137.1:c.2860A>G	XP_016870626.1:p.Ser954Gly
XM_017015138.1:c.2860A>G	XP_016870627.1:p.Ser954Gly
XM_024447674.1:c.2803A>G	XP_024303442.1:p.Ser935Gly
XM_024447675.1:c.2737A>G	XP_024303443.1:p.Ser913Gly
XM_024447676.1:c.2098A>G	XP_024303444.1:p.Ser700Gly
XM_024447677.1:c.2098A>G	XP_024303445.1:p.Ser700Gly
XM_024447680.1:c.2716A>G	XP_024303448.1:p.Ser906Gly
NM_024757.5:c.2974A>G MANE Select	NP_079033.4:p.Ser992Gly
NM_001354263.2:c.2953A>G	NP_001341192.1:p.Ser985Gly