Canonical Allele Identifier: CA340098

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 3605
• ClinVar RCV Id: RCV000003789 ; RCV001579482
• dbSNP Id: rs121918301
• COSMIC: COSM753010 ; COSM1151257
• MyVariant Identifiers: chr9:g.140712552C>T (hg19) ; chr9:g.137818100C>T (hg38)
• PubMed: PMID:16826528 ; PMID:20945554

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818100C>T , CM000671.2:g.137818100C>T	GRCh38
NC_000009.11:g.140712552C>T , CM000671.1:g.140712552C>T	GRCh37
NC_000009.10:g.139832373C>T	NCBI36
NG_011776.1:g.204109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3502C>T MANE Select	ENSP00000417980.1:p.Arg1168Ter
ENST00000636472.1:n.64C>T
ENST00000637161.1:c.3409C>T	ENSP00000490328.1:p.Arg1137Ter
ENST00000637261.1:c.4076C>T	ENSP00000490815.1:n.4076C>T
ENST00000637748.1:n.483C>T
ENST00000637891.1:c.1576C>T	ENSP00000490907.1:n.1576C>T
ENST00000460843.5:c.3502C>T	ENSP00000417980.1:p.Arg1168Ter
ENST00000462942.3:c.2359C>T	ENSP00000436107.1:p.Arg787Ter
ENST00000475564.5:n.1226C>T
ENST00000494249.5:n.855C>T
NM_024757.4:c.3502C>T	NP_079033.4:p.Arg1168Ter
XM_005266105.3:c.3493C>T	XP_005266162.1:p.Arg1165Ter
XM_005266110.1:c.3409C>T	XP_005266167.1:p.Arg1137Ter
XM_006717288.2:c.3484C>T	XP_006717351.1:p.Arg1162Ter
XM_011519021.1:c.3511C>T	XP_011517323.1:p.Arg1171Ter
XM_011519022.1:c.3508C>T	XP_011517324.1:p.Arg1170Ter
XM_011519023.1:c.3490C>T	XP_011517325.1:p.Arg1164Ter
XM_011519024.1:c.3433C>T	XP_011517326.1:p.Arg1145Ter
XM_011519025.1:c.3409C>T	XP_011517327.1:p.Arg1137Ter
XM_011519026.1:c.3367C>T	XP_011517328.1:p.Arg1123Ter
XM_011519029.1:c.1933C>T	XP_011517331.1:p.Arg645Ter
XM_011519030.1:c.1285C>T	XP_011517332.1:p.Arg429Ter
XM_011519031.1:c.1072C>T	XP_011517333.1:p.Arg358Ter
XM_011519032.1:c.1072C>T	XP_011517334.1:p.Arg358Ter
XM_011519033.1:c.3346C>T	XP_011517335.1:p.Arg1116Ter
XR_930459.1:n.5297-3538G>A
NM_001354263.1:c.3481C>T	NP_001341192.1:p.Arg1161Ter
XM_005266105.5:c.3493C>T	XP_005266162.1:p.Arg1165Ter
XM_011519021.3:c.3511C>T	XP_011517323.1:p.Arg1171Ter
XM_011519022.3:c.3508C>T	XP_011517324.1:p.Arg1170Ter
XM_011519023.3:c.3490C>T	XP_011517325.1:p.Arg1164Ter
XM_011519029.3:c.1933C>T	XP_011517331.1:p.Arg645Ter
XM_011519030.3:c.1285C>T	XP_011517332.1:p.Arg429Ter
XM_017015134.1:c.3487C>T	XP_016870623.1:p.Arg1163Ter
XM_017015136.2:c.3403C>T	XP_016870625.1:p.Arg1135Ter
XM_017015137.1:c.3388C>T	XP_016870626.1:p.Arg1130Ter
XM_017015138.1:c.3388C>T	XP_016870627.1:p.Arg1130Ter
XM_024447674.1:c.3331C>T	XP_024303442.1:p.Arg1111Ter
XM_024447675.1:c.3265C>T	XP_024303443.1:p.Arg1089Ter
XM_024447676.1:c.2626C>T	XP_024303444.1:p.Arg876Ter
XM_024447677.1:c.2626C>T	XP_024303445.1:p.Arg876Ter
XM_024447680.1:c.3244C>T	XP_024303448.1:p.Arg1082Ter
NM_024757.5:c.3502C>T MANE Select	NP_079033.4:p.Arg1168Ter
NM_001354263.2:c.3481C>T	NP_001341192.1:p.Arg1161Ter