Canonical Allele Identifier: CA5375105

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 654596
• ClinVar RCV Id: RCV000810592 ; RCV003318642 ; RCV002440746
• dbSNP Id: rs147956904
• ExAC: 9:140707517 T / G
• gnomAD v2: 9-140707517-T-G
• gnomAD v3: 9-137813065-T-G
• gnomAD v4: 9-137813065-T-G
• MyVariant Identifiers: chr9:g.140707517T>G (hg19) ; chr9:g.137813065T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813065T>G , CM000671.2:g.137813065T>G	GRCh38
NC_000009.11:g.140707517T>G , CM000671.1:g.140707517T>G	GRCh37
NC_000009.10:g.139827338T>G	NCBI36
NG_011776.1:g.199074T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2927T>G MANE Select	ENSP00000417980.1:p.Leu976Arg
ENST00000636027.1:c.2813T>G	ENSP00000489961.1:p.Leu938Arg
ENST00000637161.1:c.2834T>G	ENSP00000490328.1:p.Leu945Arg
ENST00000637261.1:c.2967T>G	ENSP00000490815.1:n.2967T>G
ENST00000637891.1:c.821T>G	ENSP00000490907.1:p.Leu274Arg
ENST00000460843.5:c.2927T>G	ENSP00000417980.1:p.Leu976Arg
ENST00000462942.3:c.1784T>G	ENSP00000436107.1:p.Leu595Arg
ENST00000486164.5:c.614T>G
ENST00000488242.2:n.453T>G
NM_024757.4:c.2927T>G	NP_079033.4:p.Leu976Arg
XM_005266105.3:c.2918T>G	XP_005266162.1:p.Leu973Arg
XM_005266110.1:c.2834T>G	XP_005266167.1:p.Leu945Arg
XM_006717288.2:c.2909T>G	XP_006717351.1:p.Leu970Arg
XM_011519021.1:c.2936T>G	XP_011517323.1:p.Leu979Arg
XM_011519022.1:c.2933T>G	XP_011517324.1:p.Leu978Arg
XM_011519023.1:c.2915T>G	XP_011517325.1:p.Leu972Arg
XM_011519024.1:c.2858T>G	XP_011517326.1:p.Leu953Arg
XM_011519025.1:c.2834T>G	XP_011517327.1:p.Leu945Arg
XM_011519026.1:c.2792T>G	XP_011517328.1:p.Leu931Arg
XM_011519029.1:c.1358T>G	XP_011517331.1:p.Leu453Arg
XM_011519030.1:c.710T>G	XP_011517332.1:p.Leu237Arg
XM_011519031.1:c.497T>G	XP_011517333.1:p.Leu166Arg
XM_011519032.1:c.497T>G	XP_011517334.1:p.Leu166Arg
XM_011519033.1:c.2771T>G	XP_011517335.1:p.Leu924Arg
NM_001354263.1:c.2906T>G	NP_001341192.1:p.Leu969Arg
XM_005266105.5:c.2918T>G	XP_005266162.1:p.Leu973Arg
XM_011519021.3:c.2936T>G	XP_011517323.1:p.Leu979Arg
XM_011519022.3:c.2933T>G	XP_011517324.1:p.Leu978Arg
XM_011519023.3:c.2915T>G	XP_011517325.1:p.Leu972Arg
XM_011519029.3:c.1358T>G	XP_011517331.1:p.Leu453Arg
XM_011519030.3:c.710T>G	XP_011517332.1:p.Leu237Arg
XM_017015134.1:c.2912T>G	XP_016870623.1:p.Leu971Arg
XM_017015136.2:c.2828T>G	XP_016870625.1:p.Leu943Arg
XM_017015137.1:c.2813T>G	XP_016870626.1:p.Leu938Arg
XM_017015138.1:c.2813T>G	XP_016870627.1:p.Leu938Arg
XM_024447674.1:c.2756T>G	XP_024303442.1:p.Leu919Arg
XM_024447675.1:c.2690T>G	XP_024303443.1:p.Leu897Arg
XM_024447676.1:c.2051T>G	XP_024303444.1:p.Leu684Arg
XM_024447677.1:c.2051T>G	XP_024303445.1:p.Leu684Arg
XM_024447680.1:c.2669T>G	XP_024303448.1:p.Leu890Arg
NM_024757.5:c.2927T>G MANE Select	NP_079033.4:p.Leu976Arg
NM_001354263.2:c.2906T>G	NP_001341192.1:p.Leu969Arg