Canonical Allele Identifier: CA375796025

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 489352
• ClinVar RCV Id: RCV000578826 ; RCV002530372
• dbSNP Id: rs1554897763
• MyVariant Identifiers: chr9:g.140710398G>A (hg19) ; chr9:g.137815946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137815946G>A , CM000671.2:g.137815946G>A	GRCh38
NC_000009.11:g.140710398G>A , CM000671.1:g.140710398G>A	GRCh37
NC_000009.10:g.139830219G>A	NCBI36
NG_011776.1:g.201955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3259-1G>A MANE Select	ENSP00000417980.1:n.3259-1G>A
ENST00000635987.1:n.66-1G>A
ENST00000636463.1:n.64-1G>A
ENST00000637161.1:c.3166-1G>A	ENSP00000490328.1:n.3166-1G>A
ENST00000637261.1:c.3299-1G>A	ENSP00000490815.1:n.3299-1G>A
ENST00000637748.1:n.195G>A
ENST00000637891.1:c.1333-1G>A	ENSP00000490907.1:n.1333-1G>A
ENST00000460843.5:c.3259-1G>A	ENSP00000417980.1:n.3259-1G>A
ENST00000462942.3:c.2116-1G>A	ENSP00000436107.1:n.2116-1G>A
ENST00000488242.2:n.785-1G>A
ENST00000494249.5:n.611G>A
NM_024757.4:c.3259-1G>A	NP_079033.4:n.3259-1G>A
XM_005266105.3:c.3250-1G>A	XP_005266162.1:n.3250-1G>A
XM_005266110.1:c.3166-1G>A	XP_005266167.1:n.3166-1G>A
XM_006717288.2:c.3241-1G>A	XP_006717351.1:n.3241-1G>A
XM_011519021.1:c.3268-1G>A	XP_011517323.1:n.3268-1G>A
XM_011519022.1:c.3265-1G>A	XP_011517324.1:n.3265-1G>A
XM_011519023.1:c.3247-1G>A	XP_011517325.1:n.3247-1G>A
XM_011519024.1:c.3190-1G>A	XP_011517326.1:n.3190-1G>A
XM_011519025.1:c.3166-1G>A	XP_011517327.1:n.3166-1G>A
XM_011519026.1:c.3124-1G>A	XP_011517328.1:n.3124-1G>A
XM_011519029.1:c.1690-1G>A	XP_011517331.1:n.1690-1G>A
XM_011519030.1:c.1042-1G>A	XP_011517332.1:n.1042-1G>A
XM_011519031.1:c.829-1G>A	XP_011517333.1:n.829-1G>A
XM_011519032.1:c.829-1G>A	XP_011517334.1:n.829-1G>A
XM_011519033.1:c.3103-1G>A	XP_011517335.1:n.3103-1G>A
XR_930459.1:n.5297-1384C>T
NM_001354263.1:c.3238-1G>A	NP_001341192.1:n.3238-1G>A
XM_005266105.5:c.3250-1G>A	XP_005266162.1:n.3250-1G>A
XM_011519021.3:c.3268-1G>A	XP_011517323.1:n.3268-1G>A
XM_011519022.3:c.3265-1G>A	XP_011517324.1:n.3265-1G>A
XM_011519023.3:c.3247-1G>A	XP_011517325.1:n.3247-1G>A
XM_011519029.3:c.1690-1G>A	XP_011517331.1:n.1690-1G>A
XM_011519030.3:c.1042-1G>A	XP_011517332.1:n.1042-1G>A
XM_017015134.1:c.3244-1G>A	XP_016870623.1:n.3244-1G>A
XM_017015136.2:c.3160-1G>A	XP_016870625.1:n.3160-1G>A
XM_017015137.1:c.3145-1G>A	XP_016870626.1:n.3145-1G>A
XM_017015138.1:c.3145-1G>A	XP_016870627.1:n.3145-1G>A
XM_024447674.1:c.3088-1G>A	XP_024303442.1:n.3088-1G>A
XM_024447675.1:c.3022-1G>A	XP_024303443.1:n.3022-1G>A
XM_024447676.1:c.2383-1G>A	XP_024303444.1:n.2383-1G>A
XM_024447677.1:c.2383-1G>A	XP_024303445.1:n.2383-1G>A
XM_024447680.1:c.3001-1G>A	XP_024303448.1:n.3001-1G>A
NM_024757.5:c.3259-1G>A MANE Select	NP_079033.4:n.3259-1G>A
NM_001354263.2:c.3238-1G>A	NP_001341192.1:n.3238-1G>A