Canonical Allele Identifier: CA243505

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 196525
• ClinVar RCV Id: RCV000177345 ; RCV001337915
• dbSNP Id: rs371370370
• gnomAD v2: 9-140611073-G-A
• gnomAD v3: 9-137716621-G-A
• gnomAD v4: 9-137716621-G-A
• MyVariant Identifiers: chr9:g.140611073G>A (hg19) ; chr9:g.137716621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137716621G>A , CM000671.2:g.137716621G>A	GRCh38
NC_000009.11:g.140611073G>A , CM000671.1:g.140611073G>A	GRCh37
NC_000009.10:g.139730894G>A	NCBI36
NG_011776.1:g.102630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.86-5G>A MANE Select	ENSP00000417980.1:n.86-5G>A
ENST00000629335.2:c.86-5G>A	ENSP00000490056.1:n.86-5G>A
ENST00000636027.1:c.-8-5G>A	ENSP00000489961.1:n.-8-5G>A
ENST00000637161.1:c.-8-5G>A	ENSP00000490328.1:n.-8-5G>A
ENST00000637261.1:c.62-5G>A	ENSP00000490815.1:n.62-5G>A
ENST00000637977.1:c.31-5G>A
ENST00000371394.6:c.22-5G>A	ENSP00000485945.1:n.22-5G>A
ENST00000460486.3:c.197-5G>A	ENSP00000486969.1:n.197-5G>A
ENST00000460843.5:c.86-5G>A	ENSP00000417980.1:n.86-5G>A
ENST00000462484.5:c.86-5G>A	ENSP00000417328.1:n.86-5G>A
ENST00000492232.5:c.-8-5G>A	ENSP00000486580.1:n.-8-5G>A
ENST00000626066.2:c.10-5G>A
ENST00000626216.2:c.-8-5G>A	ENSP00000485878.1:n.-8-5G>A
ENST00000629417.1:c.-8-5G>A	ENSP00000486857.1:n.-8-5G>A
ENST00000630754.2:c.-8-5G>A	ENSP00000485933.1:n.-8-5G>A
NM_001145527.1:c.86-5G>A	NP_001138999.1:n.86-5G>A
NM_024757.4:c.86-5G>A	NP_079033.4:n.86-5G>A
XM_005266105.3:c.77-5G>A	XP_005266162.1:n.77-5G>A
XM_005266110.1:c.-8-5G>A	XP_005266167.1:n.-8-5G>A
XM_006717288.2:c.68-5G>A	XP_006717351.1:n.68-5G>A
XM_011519021.1:c.95-5G>A	XP_011517323.1:n.95-5G>A
XM_011519022.1:c.92-5G>A	XP_011517324.1:n.92-5G>A
XM_011519023.1:c.95-5G>A	XP_011517325.1:n.95-5G>A
XM_011519024.1:c.95-5G>A	XP_011517326.1:n.95-5G>A
XM_011519025.1:c.-8-5G>A	XP_011517327.1:n.-8-5G>A
XM_011519026.1:c.95-5G>A	XP_011517328.1:n.95-5G>A
XM_011519027.1:c.95-5G>A	XP_011517329.1:n.95-5G>A
XM_011519028.1:c.95-5G>A	XP_011517330.1:n.95-5G>A
XM_011519033.1:c.95-5G>A	XP_011517335.1:n.95-5G>A
NM_001354259.1:c.-8-5G>A	NP_001341188.1:n.-8-5G>A
NM_001354263.1:c.86-5G>A	NP_001341192.1:n.86-5G>A
NM_001354611.1:c.86-5G>A	NP_001341540.1:n.86-5G>A
NM_001354612.1:c.-8-5G>A	NP_001341541.1:n.-8-5G>A
XM_005266105.5:c.77-5G>A	XP_005266162.1:n.77-5G>A
XM_011519021.3:c.95-5G>A	XP_011517323.1:n.95-5G>A
XM_011519022.3:c.92-5G>A	XP_011517324.1:n.92-5G>A
XM_011519023.3:c.95-5G>A	XP_011517325.1:n.95-5G>A
XM_017015134.1:c.92-5G>A	XP_016870623.1:n.92-5G>A
XM_017015136.2:c.86-5G>A	XP_016870625.1:n.86-5G>A
XM_017015137.1:c.-8-5G>A	XP_016870626.1:n.-8-5G>A
XM_017015138.1:c.-8-5G>A	XP_016870627.1:n.-8-5G>A
XM_024447674.1:c.-8-5G>A	XP_024303442.1:n.-8-5G>A
XM_024447675.1:c.-8-5G>A	XP_024303443.1:n.-8-5G>A
XM_024447678.1:c.-8-5G>A	XP_024303446.1:n.-8-5G>A
XM_024447679.1:c.-8-5G>A	XP_024303447.1:n.-8-5G>A
XM_024447680.1:c.-8-5G>A	XP_024303448.1:n.-8-5G>A
NM_024757.5:c.86-5G>A MANE Select	NP_079033.4:n.86-5G>A
NM_001145527.2:c.86-5G>A	NP_001138999.1:n.86-5G>A
NM_001354259.2:c.-8-5G>A	NP_001341188.1:n.-8-5G>A
NM_001354263.2:c.86-5G>A	NP_001341192.1:n.86-5G>A
NM_001354611.2:c.86-5G>A	NP_001341540.1:n.86-5G>A
NM_001354612.2:c.-8-5G>A	NP_001341541.1:n.-8-5G>A