Canonical Allele Identifier: CA5375100

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2796748
• ClinVar RCV Id: RCV003609577
• dbSNP Id: rs368414719
• ExAC: 9:140707494 G / A
• gnomAD v2: 9-140707494-G-A
• gnomAD v4: 9-137813042-G-A
• MyVariant Identifiers: chr9:g.140707494G>A (hg19) ; chr9:g.137813042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813042G>A , CM000671.2:g.137813042G>A	GRCh38
NC_000009.11:g.140707494G>A , CM000671.1:g.140707494G>A	GRCh37
NC_000009.10:g.139827315G>A	NCBI36
NG_011776.1:g.199051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2904G>A MANE Select	ENSP00000417980.1:p.Lys968=
ENST00000636027.1:c.2790G>A	ENSP00000489961.1:p.Lys930=
ENST00000637161.1:c.2811G>A	ENSP00000490328.1:p.Lys937=
ENST00000637261.1:c.2944G>A	ENSP00000490815.1:n.2944G>A
ENST00000637891.1:c.798G>A	ENSP00000490907.1:p.Lys266=
ENST00000460843.5:c.2904G>A	ENSP00000417980.1:p.Lys968=
ENST00000462942.3:c.1761G>A	ENSP00000436107.1:p.Lys587=
ENST00000486164.5:c.591G>A
ENST00000488242.2:n.430G>A
NM_024757.4:c.2904G>A	NP_079033.4:p.Lys968=
XM_005266105.3:c.2895G>A	XP_005266162.1:p.Lys965=
XM_005266110.1:c.2811G>A	XP_005266167.1:p.Lys937=
XM_006717288.2:c.2886G>A	XP_006717351.1:p.Lys962=
XM_011519021.1:c.2913G>A	XP_011517323.1:p.Lys971=
XM_011519022.1:c.2910G>A	XP_011517324.1:p.Lys970=
XM_011519023.1:c.2892G>A	XP_011517325.1:p.Lys964=
XM_011519024.1:c.2835G>A	XP_011517326.1:p.Lys945=
XM_011519025.1:c.2811G>A	XP_011517327.1:p.Lys937=
XM_011519026.1:c.2769G>A	XP_011517328.1:p.Lys923=
XM_011519029.1:c.1335G>A	XP_011517331.1:p.Lys445=
XM_011519030.1:c.687G>A	XP_011517332.1:p.Lys229=
XM_011519031.1:c.474G>A	XP_011517333.1:p.Lys158=
XM_011519032.1:c.474G>A	XP_011517334.1:p.Lys158=
XM_011519033.1:c.2748G>A	XP_011517335.1:p.Lys916=
NM_001354263.1:c.2883G>A	NP_001341192.1:p.Lys961=
XM_005266105.5:c.2895G>A	XP_005266162.1:p.Lys965=
XM_011519021.3:c.2913G>A	XP_011517323.1:p.Lys971=
XM_011519022.3:c.2910G>A	XP_011517324.1:p.Lys970=
XM_011519023.3:c.2892G>A	XP_011517325.1:p.Lys964=
XM_011519029.3:c.1335G>A	XP_011517331.1:p.Lys445=
XM_011519030.3:c.687G>A	XP_011517332.1:p.Lys229=
XM_017015134.1:c.2889G>A	XP_016870623.1:p.Lys963=
XM_017015136.2:c.2805G>A	XP_016870625.1:p.Lys935=
XM_017015137.1:c.2790G>A	XP_016870626.1:p.Lys930=
XM_017015138.1:c.2790G>A	XP_016870627.1:p.Lys930=
XM_024447674.1:c.2733G>A	XP_024303442.1:p.Lys911=
XM_024447675.1:c.2667G>A	XP_024303443.1:p.Lys889=
XM_024447676.1:c.2028G>A	XP_024303444.1:p.Lys676=
XM_024447677.1:c.2028G>A	XP_024303445.1:p.Lys676=
XM_024447680.1:c.2646G>A	XP_024303448.1:p.Lys882=
NM_024757.5:c.2904G>A MANE Select	NP_079033.4:p.Lys968=
NM_001354263.2:c.2883G>A	NP_001341192.1:p.Lys961=