Canonical Allele Identifier: CA5375114

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 992401
• ClinVar RCV Id: RCV001280843
• dbSNP Id: rs751339540
• ExAC: 9:140707549 A / G
• gnomAD v2: 9-140707549-A-G
• gnomAD v4: 9-137813097-A-G
• MyVariant Identifiers: chr9:g.140707549A>G (hg19) ; chr9:g.137813097A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813097A>G , CM000671.2:g.137813097A>G	GRCh38
NC_000009.11:g.140707549A>G , CM000671.1:g.140707549A>G	GRCh37
NC_000009.10:g.139827370A>G	NCBI36
NG_011776.1:g.199106A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2959A>G MANE Select	ENSP00000417980.1:p.Ser987Gly
ENST00000636027.1:c.2845A>G	ENSP00000489961.1:p.Ser949Gly
ENST00000637161.1:c.2866A>G	ENSP00000490328.1:p.Ser956Gly
ENST00000637261.1:c.2999A>G	ENSP00000490815.1:n.2999A>G
ENST00000637891.1:c.853A>G	ENSP00000490907.1:p.Ser285Gly
ENST00000460843.5:c.2959A>G	ENSP00000417980.1:p.Ser987Gly
ENST00000462942.3:c.1816A>G	ENSP00000436107.1:p.Ser606Gly
ENST00000486164.5:c.646A>G
ENST00000488242.2:n.485A>G
NM_024757.4:c.2959A>G	NP_079033.4:p.Ser987Gly
XM_005266105.3:c.2950A>G	XP_005266162.1:p.Ser984Gly
XM_005266110.1:c.2866A>G	XP_005266167.1:p.Ser956Gly
XM_006717288.2:c.2941A>G	XP_006717351.1:p.Ser981Gly
XM_011519021.1:c.2968A>G	XP_011517323.1:p.Ser990Gly
XM_011519022.1:c.2965A>G	XP_011517324.1:p.Ser989Gly
XM_011519023.1:c.2947A>G	XP_011517325.1:p.Ser983Gly
XM_011519024.1:c.2890A>G	XP_011517326.1:p.Ser964Gly
XM_011519025.1:c.2866A>G	XP_011517327.1:p.Ser956Gly
XM_011519026.1:c.2824A>G	XP_011517328.1:p.Ser942Gly
XM_011519029.1:c.1390A>G	XP_011517331.1:p.Ser464Gly
XM_011519030.1:c.742A>G	XP_011517332.1:p.Ser248Gly
XM_011519031.1:c.529A>G	XP_011517333.1:p.Ser177Gly
XM_011519032.1:c.529A>G	XP_011517334.1:p.Ser177Gly
XM_011519033.1:c.2803A>G	XP_011517335.1:p.Ser935Gly
NM_001354263.1:c.2938A>G	NP_001341192.1:p.Ser980Gly
XM_005266105.5:c.2950A>G	XP_005266162.1:p.Ser984Gly
XM_011519021.3:c.2968A>G	XP_011517323.1:p.Ser990Gly
XM_011519022.3:c.2965A>G	XP_011517324.1:p.Ser989Gly
XM_011519023.3:c.2947A>G	XP_011517325.1:p.Ser983Gly
XM_011519029.3:c.1390A>G	XP_011517331.1:p.Ser464Gly
XM_011519030.3:c.742A>G	XP_011517332.1:p.Ser248Gly
XM_017015134.1:c.2944A>G	XP_016870623.1:p.Ser982Gly
XM_017015136.2:c.2860A>G	XP_016870625.1:p.Ser954Gly
XM_017015137.1:c.2845A>G	XP_016870626.1:p.Ser949Gly
XM_017015138.1:c.2845A>G	XP_016870627.1:p.Ser949Gly
XM_024447674.1:c.2788A>G	XP_024303442.1:p.Ser930Gly
XM_024447675.1:c.2722A>G	XP_024303443.1:p.Ser908Gly
XM_024447676.1:c.2083A>G	XP_024303444.1:p.Ser695Gly
XM_024447677.1:c.2083A>G	XP_024303445.1:p.Ser695Gly
XM_024447680.1:c.2701A>G	XP_024303448.1:p.Ser901Gly
NM_024757.5:c.2959A>G MANE Select	NP_079033.4:p.Ser987Gly
NM_001354263.2:c.2938A>G	NP_001341192.1:p.Ser980Gly