Canonical Allele Identifier: CA10588474

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 265655
• ClinVar RCV Id: RCV000255220 ; RCV003144184
• dbSNP Id: rs886039703
• gnomAD v4: 9-137811620-G-A
• MyVariant Identifiers: chr9:g.140706072G>A (hg19) ; chr9:g.137811620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137811620G>A , CM000671.2:g.137811620G>A	GRCh38
NC_000009.11:g.140706072G>A , CM000671.1:g.140706072G>A	GRCh37
NC_000009.10:g.139825893G>A	NCBI36
NG_011776.1:g.197629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2867+5G>A MANE Select	ENSP00000417980.1:n.2867+5G>A
ENST00000636027.1:c.2753+5G>A	ENSP00000489961.1:n.2753+5G>A
ENST00000637161.1:c.2774+5G>A	ENSP00000490328.1:n.2774+5G>A
ENST00000637261.1:c.2907+5G>A	ENSP00000490815.1:n.2907+5G>A
ENST00000637891.1:c.761+5G>A	ENSP00000490907.1:n.761+5G>A
ENST00000460843.5:c.2867+5G>A	ENSP00000417980.1:n.2867+5G>A
ENST00000462942.3:c.1724+5G>A	ENSP00000436107.1:n.1724+5G>A
ENST00000486164.5:c.554+5G>A
ENST00000488242.2:n.393+5G>A
NM_024757.4:c.2867+5G>A	NP_079033.4:n.2867+5G>A
XM_005266105.3:c.2858+5G>A	XP_005266162.1:n.2858+5G>A
XM_005266110.1:c.2774+5G>A	XP_005266167.1:n.2774+5G>A
XM_006717288.2:c.2849+5G>A	XP_006717351.1:n.2849+5G>A
XM_011519021.1:c.2876+5G>A	XP_011517323.1:n.2876+5G>A
XM_011519022.1:c.2873+5G>A	XP_011517324.1:n.2873+5G>A
XM_011519023.1:c.2855+5G>A	XP_011517325.1:n.2855+5G>A
XM_011519024.1:c.2798+5G>A	XP_011517326.1:n.2798+5G>A
XM_011519025.1:c.2774+5G>A	XP_011517327.1:n.2774+5G>A
XM_011519026.1:c.2732+5G>A	XP_011517328.1:n.2732+5G>A
XM_011519029.1:c.1298+5G>A	XP_011517331.1:n.1298+5G>A
XM_011519030.1:c.650+5G>A	XP_011517332.1:n.650+5G>A
XM_011519031.1:c.437+5G>A	XP_011517333.1:n.437+5G>A
XM_011519032.1:c.437+5G>A	XP_011517334.1:n.437+5G>A
XM_011519033.1:c.2711+5G>A	XP_011517335.1:n.2711+5G>A
NM_001354263.1:c.2846+5G>A	NP_001341192.1:n.2846+5G>A
XM_005266105.5:c.2858+5G>A	XP_005266162.1:n.2858+5G>A
XM_011519021.3:c.2876+5G>A	XP_011517323.1:n.2876+5G>A
XM_011519022.3:c.2873+5G>A	XP_011517324.1:n.2873+5G>A
XM_011519023.3:c.2855+5G>A	XP_011517325.1:n.2855+5G>A
XM_011519029.3:c.1298+5G>A	XP_011517331.1:n.1298+5G>A
XM_011519030.3:c.650+5G>A	XP_011517332.1:n.650+5G>A
XM_017015134.1:c.2852+5G>A	XP_016870623.1:n.2852+5G>A
XM_017015136.2:c.2768+5G>A	XP_016870625.1:n.2768+5G>A
XM_017015137.1:c.2753+5G>A	XP_016870626.1:n.2753+5G>A
XM_017015138.1:c.2753+5G>A	XP_016870627.1:n.2753+5G>A
XM_024447674.1:c.2696+5G>A	XP_024303442.1:n.2696+5G>A
XM_024447675.1:c.2630+5G>A	XP_024303443.1:n.2630+5G>A
XM_024447676.1:c.1991+5G>A	XP_024303444.1:n.1991+5G>A
XM_024447677.1:c.1991+5G>A	XP_024303445.1:n.1991+5G>A
XM_024447680.1:c.2609+5G>A	XP_024303448.1:n.2609+5G>A
NM_024757.5:c.2867+5G>A MANE Select	NP_079033.4:n.2867+5G>A
NM_001354263.2:c.2846+5G>A	NP_001341192.1:n.2846+5G>A