Canonical Allele Identifier: CA467877574

Gene: EHMT1

Linked Data

• dbSNP Id: rs1480478493
• gnomAD v2: 9-140695334-T-C
• gnomAD v3: 9-137800882-T-C
• gnomAD v4: 9-137800882-T-C
• MyVariant Identifiers: chr9:g.140695334T>C (hg19) ; chr9:g.137800882T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800882T>C , CM000671.2:g.137800882T>C	GRCh38
NC_000009.11:g.140695334T>C , CM000671.1:g.140695334T>C	GRCh37
NC_000009.10:g.139815155T>C	NCBI36
NG_011776.1:g.186891T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2610T>C MANE Select	ENSP00000417980.1:p.Asp870=
ENST00000636027.1:c.2496T>C	ENSP00000489961.1:p.Asp832=
ENST00000637161.1:c.2517T>C	ENSP00000490328.1:p.Asp839=
ENST00000637261.1:c.2650T>C	ENSP00000490815.1:n.2650T>C
ENST00000637891.1:c.504T>C	ENSP00000490907.1:p.Asp168=
ENST00000637949.1:c.288T>C	ENSP00000489786.1:p.Asp96=
ENST00000460843.5:c.2610T>C	ENSP00000417980.1:p.Asp870=
ENST00000462942.3:c.1467T>C	ENSP00000436107.1:p.Asp489=
ENST00000482340.5:c.180T>C	ENSP00000486748.1:p.Asp60=
ENST00000486164.5:c.188T>C
ENST00000488242.2:n.136T>C
ENST00000493484.5:c.180T>C	ENSP00000486503.1:p.Asp60=
NM_024757.4:c.2610T>C	NP_079033.4:p.Asp870=
XM_005266105.3:c.2601T>C	XP_005266162.1:p.Asp867=
XM_005266110.1:c.2517T>C	XP_005266167.1:p.Asp839=
XM_006717288.2:c.2592T>C	XP_006717351.1:p.Asp864=
XM_011519021.1:c.2619T>C	XP_011517323.1:p.Asp873=
XM_011519022.1:c.2616T>C	XP_011517324.1:p.Asp872=
XM_011519023.1:c.2598T>C	XP_011517325.1:p.Asp866=
XM_011519024.1:c.2541T>C	XP_011517326.1:p.Asp847=
XM_011519025.1:c.2517T>C	XP_011517327.1:p.Asp839=
XM_011519026.1:c.2475T>C	XP_011517328.1:p.Asp825=
XM_011519027.1:c.2619T>C	XP_011517329.1:p.Asp873=
XM_011519029.1:c.1041T>C	XP_011517331.1:p.Asp347=
XM_011519030.1:c.393T>C	XP_011517332.1:p.Asp131=
XM_011519031.1:c.180T>C	XP_011517333.1:p.Asp60=
XM_011519032.1:c.180T>C	XP_011517334.1:p.Asp60=
XM_011519033.1:c.2454T>C	XP_011517335.1:p.Asp818=
NM_001354263.1:c.2589T>C	NP_001341192.1:p.Asp863=
XM_005266105.5:c.2601T>C	XP_005266162.1:p.Asp867=
XM_011519021.3:c.2619T>C	XP_011517323.1:p.Asp873=
XM_011519022.3:c.2616T>C	XP_011517324.1:p.Asp872=
XM_011519023.3:c.2598T>C	XP_011517325.1:p.Asp866=
XM_011519029.3:c.1041T>C	XP_011517331.1:p.Asp347=
XM_011519030.3:c.393T>C	XP_011517332.1:p.Asp131=
XM_017015134.1:c.2595T>C	XP_016870623.1:p.Asp865=
XM_017015136.2:c.2511T>C	XP_016870625.1:p.Asp837=
XM_017015137.1:c.2496T>C	XP_016870626.1:p.Asp832=
XM_017015138.1:c.2496T>C	XP_016870627.1:p.Asp832=
XM_024447674.1:c.2439T>C	XP_024303442.1:p.Asp813=
XM_024447675.1:c.2373T>C	XP_024303443.1:p.Asp791=
XM_024447676.1:c.1734T>C	XP_024303444.1:p.Asp578=
XM_024447677.1:c.1734T>C	XP_024303445.1:p.Asp578=
XM_024447678.1:c.2517T>C	XP_024303446.1:p.Asp839=
XM_024447680.1:c.2352T>C	XP_024303448.1:p.Asp784=
NM_024757.5:c.2610T>C MANE Select	NP_079033.4:p.Asp870=
NM_001354263.2:c.2589T>C	NP_001341192.1:p.Asp863=