Canonical Allele Identifier: CA375793538

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 462990
• ClinVar RCV Id: RCV000558266
• dbSNP Id: rs1554896118
• gnomAD v4: 9-137813101-C-T
• MyVariant Identifiers: chr9:g.140707553C>T (hg19) ; chr9:g.137813101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813101C>T , CM000671.2:g.137813101C>T	GRCh38
NC_000009.11:g.140707553C>T , CM000671.1:g.140707553C>T	GRCh37
NC_000009.10:g.139827374C>T	NCBI36
NG_011776.1:g.199110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2963C>T MANE Select	ENSP00000417980.1:p.Ala988Val
ENST00000636027.1:c.2849C>T	ENSP00000489961.1:p.Ala950Val
ENST00000637161.1:c.2870C>T	ENSP00000490328.1:p.Ala957Val
ENST00000637261.1:c.3003C>T	ENSP00000490815.1:n.3003C>T
ENST00000637891.1:c.857C>T	ENSP00000490907.1:p.Ala286Val
ENST00000460843.5:c.2963C>T	ENSP00000417980.1:p.Ala988Val
ENST00000462942.3:c.1820C>T	ENSP00000436107.1:p.Ala607Val
ENST00000486164.5:c.650C>T
ENST00000488242.2:n.489C>T
NM_024757.4:c.2963C>T	NP_079033.4:p.Ala988Val
XM_005266105.3:c.2954C>T	XP_005266162.1:p.Ala985Val
XM_005266110.1:c.2870C>T	XP_005266167.1:p.Ala957Val
XM_006717288.2:c.2945C>T	XP_006717351.1:p.Ala982Val
XM_011519021.1:c.2972C>T	XP_011517323.1:p.Ala991Val
XM_011519022.1:c.2969C>T	XP_011517324.1:p.Ala990Val
XM_011519023.1:c.2951C>T	XP_011517325.1:p.Ala984Val
XM_011519024.1:c.2894C>T	XP_011517326.1:p.Ala965Val
XM_011519025.1:c.2870C>T	XP_011517327.1:p.Ala957Val
XM_011519026.1:c.2828C>T	XP_011517328.1:p.Ala943Val
XM_011519029.1:c.1394C>T	XP_011517331.1:p.Ala465Val
XM_011519030.1:c.746C>T	XP_011517332.1:p.Ala249Val
XM_011519031.1:c.533C>T	XP_011517333.1:p.Ala178Val
XM_011519032.1:c.533C>T	XP_011517334.1:p.Ala178Val
XM_011519033.1:c.2807C>T	XP_011517335.1:p.Ala936Val
NM_001354263.1:c.2942C>T	NP_001341192.1:p.Ala981Val
XM_005266105.5:c.2954C>T	XP_005266162.1:p.Ala985Val
XM_011519021.3:c.2972C>T	XP_011517323.1:p.Ala991Val
XM_011519022.3:c.2969C>T	XP_011517324.1:p.Ala990Val
XM_011519023.3:c.2951C>T	XP_011517325.1:p.Ala984Val
XM_011519029.3:c.1394C>T	XP_011517331.1:p.Ala465Val
XM_011519030.3:c.746C>T	XP_011517332.1:p.Ala249Val
XM_017015134.1:c.2948C>T	XP_016870623.1:p.Ala983Val
XM_017015136.2:c.2864C>T	XP_016870625.1:p.Ala955Val
XM_017015137.1:c.2849C>T	XP_016870626.1:p.Ala950Val
XM_017015138.1:c.2849C>T	XP_016870627.1:p.Ala950Val
XM_024447674.1:c.2792C>T	XP_024303442.1:p.Ala931Val
XM_024447675.1:c.2726C>T	XP_024303443.1:p.Ala909Val
XM_024447676.1:c.2087C>T	XP_024303444.1:p.Ala696Val
XM_024447677.1:c.2087C>T	XP_024303445.1:p.Ala696Val
XM_024447680.1:c.2705C>T	XP_024303448.1:p.Ala902Val
NM_024757.5:c.2963C>T MANE Select	NP_079033.4:p.Ala988Val
NM_001354263.2:c.2942C>T	NP_001341192.1:p.Ala981Val