Canonical Allele Identifier: CA375793445

Gene: EHMT1

Linked Data

• dbSNP Id: rs1236299267
• gnomAD v4: 9-137813079-C-T
• MyVariant Identifiers: chr9:g.140707531C>T (hg19) ; chr9:g.137813079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813079C>T , CM000671.2:g.137813079C>T	GRCh38
NC_000009.11:g.140707531C>T , CM000671.1:g.140707531C>T	GRCh37
NC_000009.10:g.139827352C>T	NCBI36
NG_011776.1:g.199088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2941C>T MANE Select	ENSP00000417980.1:p.Leu981Phe
ENST00000636027.1:c.2827C>T	ENSP00000489961.1:p.Leu943Phe
ENST00000637161.1:c.2848C>T	ENSP00000490328.1:p.Leu950Phe
ENST00000637261.1:c.2981C>T	ENSP00000490815.1:n.2981C>T
ENST00000637891.1:c.835C>T	ENSP00000490907.1:p.Leu279Phe
ENST00000460843.5:c.2941C>T	ENSP00000417980.1:p.Leu981Phe
ENST00000462942.3:c.1798C>T	ENSP00000436107.1:p.Leu600Phe
ENST00000486164.5:c.628C>T
ENST00000488242.2:n.467C>T
NM_024757.4:c.2941C>T	NP_079033.4:p.Leu981Phe
XM_005266105.3:c.2932C>T	XP_005266162.1:p.Leu978Phe
XM_005266110.1:c.2848C>T	XP_005266167.1:p.Leu950Phe
XM_006717288.2:c.2923C>T	XP_006717351.1:p.Leu975Phe
XM_011519021.1:c.2950C>T	XP_011517323.1:p.Leu984Phe
XM_011519022.1:c.2947C>T	XP_011517324.1:p.Leu983Phe
XM_011519023.1:c.2929C>T	XP_011517325.1:p.Leu977Phe
XM_011519024.1:c.2872C>T	XP_011517326.1:p.Leu958Phe
XM_011519025.1:c.2848C>T	XP_011517327.1:p.Leu950Phe
XM_011519026.1:c.2806C>T	XP_011517328.1:p.Leu936Phe
XM_011519029.1:c.1372C>T	XP_011517331.1:p.Leu458Phe
XM_011519030.1:c.724C>T	XP_011517332.1:p.Leu242Phe
XM_011519031.1:c.511C>T	XP_011517333.1:p.Leu171Phe
XM_011519032.1:c.511C>T	XP_011517334.1:p.Leu171Phe
XM_011519033.1:c.2785C>T	XP_011517335.1:p.Leu929Phe
NM_001354263.1:c.2920C>T	NP_001341192.1:p.Leu974Phe
XM_005266105.5:c.2932C>T	XP_005266162.1:p.Leu978Phe
XM_011519021.3:c.2950C>T	XP_011517323.1:p.Leu984Phe
XM_011519022.3:c.2947C>T	XP_011517324.1:p.Leu983Phe
XM_011519023.3:c.2929C>T	XP_011517325.1:p.Leu977Phe
XM_011519029.3:c.1372C>T	XP_011517331.1:p.Leu458Phe
XM_011519030.3:c.724C>T	XP_011517332.1:p.Leu242Phe
XM_017015134.1:c.2926C>T	XP_016870623.1:p.Leu976Phe
XM_017015136.2:c.2842C>T	XP_016870625.1:p.Leu948Phe
XM_017015137.1:c.2827C>T	XP_016870626.1:p.Leu943Phe
XM_017015138.1:c.2827C>T	XP_016870627.1:p.Leu943Phe
XM_024447674.1:c.2770C>T	XP_024303442.1:p.Leu924Phe
XM_024447675.1:c.2704C>T	XP_024303443.1:p.Leu902Phe
XM_024447676.1:c.2065C>T	XP_024303444.1:p.Leu689Phe
XM_024447677.1:c.2065C>T	XP_024303445.1:p.Leu689Phe
XM_024447680.1:c.2683C>T	XP_024303448.1:p.Leu895Phe
NM_024757.5:c.2941C>T MANE Select	NP_079033.4:p.Leu981Phe
NM_001354263.2:c.2920C>T	NP_001341192.1:p.Leu974Phe