Canonical Allele Identifier: CA16043442

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 374034
• ClinVar RCV Id: RCV000415193 ; RCV000521222 ; RCV001007951
• dbSNP Id: rs1057518849
• COSMIC: COSM487270 ; COSM1137979
• MyVariant Identifiers: chr9:g.140695437G>A (hg19) ; chr9:g.137800985G>A (hg38)
• PubMed: PMID:27479843

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800985G>A , CM000671.2:g.137800985G>A	GRCh38
NC_000009.11:g.140695437G>A , CM000671.1:g.140695437G>A	GRCh37
NC_000009.10:g.139815258G>A	NCBI36
NG_011776.1:g.186994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2712+1G>A MANE Select	ENSP00000417980.1:n.2712+1G>A
ENST00000636027.1:c.2598+1G>A	ENSP00000489961.1:n.2598+1G>A
ENST00000637161.1:c.2619+1G>A	ENSP00000490328.1:n.2619+1G>A
ENST00000637261.1:c.2752+1G>A	ENSP00000490815.1:n.2752+1G>A
ENST00000637891.1:c.606+1G>A	ENSP00000490907.1:n.606+1G>A
ENST00000637949.1:c.390+1G>A	ENSP00000489786.1:n.390+1G>A
ENST00000460843.5:c.2712+1G>A	ENSP00000417980.1:n.2712+1G>A
ENST00000462942.3:c.1569+1G>A	ENSP00000436107.1:n.1569+1G>A
ENST00000482340.5:c.282+1G>A	ENSP00000486748.1:n.282+1G>A
ENST00000486164.5:c.290+1G>A
ENST00000488242.2:n.238+1G>A
ENST00000493484.5:c.282+1G>A	ENSP00000486503.1:n.282+1G>A
NM_024757.4:c.2712+1G>A	NP_079033.4:n.2712+1G>A
XM_005266105.3:c.2703+1G>A	XP_005266162.1:n.2703+1G>A
XM_005266110.1:c.2619+1G>A	XP_005266167.1:n.2619+1G>A
XM_006717288.2:c.2694+1G>A	XP_006717351.1:n.2694+1G>A
XM_011519021.1:c.2721+1G>A	XP_011517323.1:n.2721+1G>A
XM_011519022.1:c.2718+1G>A	XP_011517324.1:n.2718+1G>A
XM_011519023.1:c.2700+1G>A	XP_011517325.1:n.2700+1G>A
XM_011519024.1:c.2643+1G>A	XP_011517326.1:n.2643+1G>A
XM_011519025.1:c.2619+1G>A	XP_011517327.1:n.2619+1G>A
XM_011519026.1:c.2577+1G>A	XP_011517328.1:n.2577+1G>A
XM_011519027.1:c.2721+1G>A	XP_011517329.1:n.2721+1G>A
XM_011519029.1:c.1143+1G>A	XP_011517331.1:n.1143+1G>A
XM_011519030.1:c.495+1G>A	XP_011517332.1:n.495+1G>A
XM_011519031.1:c.282+1G>A	XP_011517333.1:n.282+1G>A
XM_011519032.1:c.282+1G>A	XP_011517334.1:n.282+1G>A
XM_011519033.1:c.2556+1G>A	XP_011517335.1:n.2556+1G>A
NM_001354263.1:c.2691+1G>A	NP_001341192.1:n.2691+1G>A
XM_005266105.5:c.2703+1G>A	XP_005266162.1:n.2703+1G>A
XM_011519021.3:c.2721+1G>A	XP_011517323.1:n.2721+1G>A
XM_011519022.3:c.2718+1G>A	XP_011517324.1:n.2718+1G>A
XM_011519023.3:c.2700+1G>A	XP_011517325.1:n.2700+1G>A
XM_011519029.3:c.1143+1G>A	XP_011517331.1:n.1143+1G>A
XM_011519030.3:c.495+1G>A	XP_011517332.1:n.495+1G>A
XM_017015134.1:c.2697+1G>A	XP_016870623.1:n.2697+1G>A
XM_017015136.2:c.2613+1G>A	XP_016870625.1:n.2613+1G>A
XM_017015137.1:c.2598+1G>A	XP_016870626.1:n.2598+1G>A
XM_017015138.1:c.2598+1G>A	XP_016870627.1:n.2598+1G>A
XM_024447674.1:c.2541+1G>A	XP_024303442.1:n.2541+1G>A
XM_024447675.1:c.2475+1G>A	XP_024303443.1:n.2475+1G>A
XM_024447676.1:c.1836+1G>A	XP_024303444.1:n.1836+1G>A
XM_024447677.1:c.1836+1G>A	XP_024303445.1:n.1836+1G>A
XM_024447678.1:c.2619+1G>A	XP_024303446.1:n.2619+1G>A
XM_024447680.1:c.2454+1G>A	XP_024303448.1:n.2454+1G>A
NM_024757.5:c.2712+1G>A MANE Select	NP_079033.4:n.2712+1G>A
NM_001354263.2:c.2691+1G>A	NP_001341192.1:n.2691+1G>A