Canonical Allele Identifier: CA375794342

Gene: EHMT1

Linked Data

• dbSNP Id: rs1356860858
• gnomAD v2: 9-140707927-C-G
• MyVariant Identifiers: chr9:g.140707927C>G (hg19) ; chr9:g.137813475C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813475C>G , CM000671.2:g.137813475C>G	GRCh38
NC_000009.11:g.140707927C>G , CM000671.1:g.140707927C>G	GRCh37
NC_000009.10:g.139827748C>G	NCBI36
NG_011776.1:g.199484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3125C>G MANE Select	ENSP00000417980.1:p.Ser1042Cys
ENST00000637161.1:c.3032C>G	ENSP00000490328.1:p.Ser1011Cys
ENST00000637261.1:c.3165C>G	ENSP00000490815.1:n.3165C>G
ENST00000637891.1:c.1019C>G	ENSP00000490907.1:p.Ser340Cys
ENST00000460843.5:c.3125C>G	ENSP00000417980.1:p.Ser1042Cys
ENST00000462942.3:c.1982C>G	ENSP00000436107.1:p.Ser661Cys
ENST00000488242.2:n.651C>G
NM_024757.4:c.3125C>G	NP_079033.4:p.Ser1042Cys
XM_005266105.3:c.3116C>G	XP_005266162.1:p.Ser1039Cys
XM_005266110.1:c.3032C>G	XP_005266167.1:p.Ser1011Cys
XM_006717288.2:c.3107C>G	XP_006717351.1:p.Ser1036Cys
XM_011519021.1:c.3134C>G	XP_011517323.1:p.Ser1045Cys
XM_011519022.1:c.3131C>G	XP_011517324.1:p.Ser1044Cys
XM_011519023.1:c.3113C>G	XP_011517325.1:p.Ser1038Cys
XM_011519024.1:c.3056C>G	XP_011517326.1:p.Ser1019Cys
XM_011519025.1:c.3032C>G	XP_011517327.1:p.Ser1011Cys
XM_011519026.1:c.2990C>G	XP_011517328.1:p.Ser997Cys
XM_011519029.1:c.1556C>G	XP_011517331.1:p.Ser519Cys
XM_011519030.1:c.908C>G	XP_011517332.1:p.Ser303Cys
XM_011519031.1:c.695C>G	XP_011517333.1:p.Ser232Cys
XM_011519032.1:c.695C>G	XP_011517334.1:p.Ser232Cys
XM_011519033.1:c.2969C>G	XP_011517335.1:p.Ser990Cys
NM_001354263.1:c.3104C>G	NP_001341192.1:p.Ser1035Cys
XM_005266105.5:c.3116C>G	XP_005266162.1:p.Ser1039Cys
XM_011519021.3:c.3134C>G	XP_011517323.1:p.Ser1045Cys
XM_011519022.3:c.3131C>G	XP_011517324.1:p.Ser1044Cys
XM_011519023.3:c.3113C>G	XP_011517325.1:p.Ser1038Cys
XM_011519029.3:c.1556C>G	XP_011517331.1:p.Ser519Cys
XM_011519030.3:c.908C>G	XP_011517332.1:p.Ser303Cys
XM_017015134.1:c.3110C>G	XP_016870623.1:p.Ser1037Cys
XM_017015136.2:c.3026C>G	XP_016870625.1:p.Ser1009Cys
XM_017015137.1:c.3011C>G	XP_016870626.1:p.Ser1004Cys
XM_017015138.1:c.3011C>G	XP_016870627.1:p.Ser1004Cys
XM_024447674.1:c.2954C>G	XP_024303442.1:p.Ser985Cys
XM_024447675.1:c.2888C>G	XP_024303443.1:p.Ser963Cys
XM_024447676.1:c.2249C>G	XP_024303444.1:p.Ser750Cys
XM_024447677.1:c.2249C>G	XP_024303445.1:p.Ser750Cys
XM_024447680.1:c.2867C>G	XP_024303448.1:p.Ser956Cys
NM_024757.5:c.3125C>G MANE Select	NP_079033.4:p.Ser1042Cys
NM_001354263.2:c.3104C>G	NP_001341192.1:p.Ser1035Cys