Canonical Allele Identifier: CA375794620

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 620072
• ClinVar RCV Id: RCV000760286
• MyVariant Identifiers: chr9:g.140707975A>T (hg19) ; chr9:g.137813523A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813523A>T , CM000671.2:g.137813523A>T	GRCh38
NC_000009.11:g.140707975A>T , CM000671.1:g.140707975A>T	GRCh37
NC_000009.10:g.139827796A>T	NCBI36
NG_011776.1:g.199532A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3173A>T MANE Select	ENSP00000417980.1:p.His1058Leu
ENST00000637161.1:c.3080A>T	ENSP00000490328.1:p.His1027Leu
ENST00000637261.1:c.3213A>T	ENSP00000490815.1:n.3213A>T
ENST00000637891.1:c.1067A>T	ENSP00000490907.1:p.His356Leu
ENST00000460843.5:c.3173A>T	ENSP00000417980.1:p.His1058Leu
ENST00000462942.3:c.2030A>T	ENSP00000436107.1:p.His677Leu
ENST00000483653.1:n.33A>T
ENST00000488242.2:n.699A>T
NM_024757.4:c.3173A>T	NP_079033.4:p.His1058Leu
XM_005266105.3:c.3164A>T	XP_005266162.1:p.His1055Leu
XM_005266110.1:c.3080A>T	XP_005266167.1:p.His1027Leu
XM_006717288.2:c.3155A>T	XP_006717351.1:p.His1052Leu
XM_011519021.1:c.3182A>T	XP_011517323.1:p.His1061Leu
XM_011519022.1:c.3179A>T	XP_011517324.1:p.His1060Leu
XM_011519023.1:c.3161A>T	XP_011517325.1:p.His1054Leu
XM_011519024.1:c.3104A>T	XP_011517326.1:p.His1035Leu
XM_011519025.1:c.3080A>T	XP_011517327.1:p.His1027Leu
XM_011519026.1:c.3038A>T	XP_011517328.1:p.His1013Leu
XM_011519029.1:c.1604A>T	XP_011517331.1:p.His535Leu
XM_011519030.1:c.956A>T	XP_011517332.1:p.His319Leu
XM_011519031.1:c.743A>T	XP_011517333.1:p.His248Leu
XM_011519032.1:c.743A>T	XP_011517334.1:p.His248Leu
XM_011519033.1:c.3017A>T	XP_011517335.1:p.His1006Leu
NM_001354263.1:c.3152A>T	NP_001341192.1:p.His1051Leu
XM_005266105.5:c.3164A>T	XP_005266162.1:p.His1055Leu
XM_011519021.3:c.3182A>T	XP_011517323.1:p.His1061Leu
XM_011519022.3:c.3179A>T	XP_011517324.1:p.His1060Leu
XM_011519023.3:c.3161A>T	XP_011517325.1:p.His1054Leu
XM_011519029.3:c.1604A>T	XP_011517331.1:p.His535Leu
XM_011519030.3:c.956A>T	XP_011517332.1:p.His319Leu
XM_017015134.1:c.3158A>T	XP_016870623.1:p.His1053Leu
XM_017015136.2:c.3074A>T	XP_016870625.1:p.His1025Leu
XM_017015137.1:c.3059A>T	XP_016870626.1:p.His1020Leu
XM_017015138.1:c.3059A>T	XP_016870627.1:p.His1020Leu
XM_024447674.1:c.3002A>T	XP_024303442.1:p.His1001Leu
XM_024447675.1:c.2936A>T	XP_024303443.1:p.His979Leu
XM_024447676.1:c.2297A>T	XP_024303444.1:p.His766Leu
XM_024447677.1:c.2297A>T	XP_024303445.1:p.His766Leu
XM_024447680.1:c.2915A>T	XP_024303448.1:p.His972Leu
NM_024757.5:c.3173A>T MANE Select	NP_079033.4:p.His1058Leu
NM_001354263.2:c.3152A>T	NP_001341192.1:p.His1051Leu