Canonical Allele Identifier: CA5375102

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 654930
• ClinVar RCV Id: RCV000811002
• dbSNP Id: rs371580823
• ExAC: 9:140707511 C / T
• gnomAD v2: 9-140707511-C-T
• gnomAD v3: 9-137813059-C-T
• gnomAD v4: 9-137813059-C-T
• MyVariant Identifiers: chr9:g.140707511C>T (hg19) ; chr9:g.137813059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813059C>T , CM000671.2:g.137813059C>T	GRCh38
NC_000009.11:g.140707511C>T , CM000671.1:g.140707511C>T	GRCh37
NC_000009.10:g.139827332C>T	NCBI36
NG_011776.1:g.199068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2921C>T MANE Select	ENSP00000417980.1:p.Thr974Met
ENST00000636027.1:c.2807C>T	ENSP00000489961.1:p.Thr936Met
ENST00000637161.1:c.2828C>T	ENSP00000490328.1:p.Thr943Met
ENST00000637261.1:c.2961C>T	ENSP00000490815.1:n.2961C>T
ENST00000637891.1:c.815C>T	ENSP00000490907.1:p.Thr272Met
ENST00000460843.5:c.2921C>T	ENSP00000417980.1:p.Thr974Met
ENST00000462942.3:c.1778C>T	ENSP00000436107.1:p.Thr593Met
ENST00000486164.5:c.608C>T
ENST00000488242.2:n.447C>T
NM_024757.4:c.2921C>T	NP_079033.4:p.Thr974Met
XM_005266105.3:c.2912C>T	XP_005266162.1:p.Thr971Met
XM_005266110.1:c.2828C>T	XP_005266167.1:p.Thr943Met
XM_006717288.2:c.2903C>T	XP_006717351.1:p.Thr968Met
XM_011519021.1:c.2930C>T	XP_011517323.1:p.Thr977Met
XM_011519022.1:c.2927C>T	XP_011517324.1:p.Thr976Met
XM_011519023.1:c.2909C>T	XP_011517325.1:p.Thr970Met
XM_011519024.1:c.2852C>T	XP_011517326.1:p.Thr951Met
XM_011519025.1:c.2828C>T	XP_011517327.1:p.Thr943Met
XM_011519026.1:c.2786C>T	XP_011517328.1:p.Thr929Met
XM_011519029.1:c.1352C>T	XP_011517331.1:p.Thr451Met
XM_011519030.1:c.704C>T	XP_011517332.1:p.Thr235Met
XM_011519031.1:c.491C>T	XP_011517333.1:p.Thr164Met
XM_011519032.1:c.491C>T	XP_011517334.1:p.Thr164Met
XM_011519033.1:c.2765C>T	XP_011517335.1:p.Thr922Met
NM_001354263.1:c.2900C>T	NP_001341192.1:p.Thr967Met
XM_005266105.5:c.2912C>T	XP_005266162.1:p.Thr971Met
XM_011519021.3:c.2930C>T	XP_011517323.1:p.Thr977Met
XM_011519022.3:c.2927C>T	XP_011517324.1:p.Thr976Met
XM_011519023.3:c.2909C>T	XP_011517325.1:p.Thr970Met
XM_011519029.3:c.1352C>T	XP_011517331.1:p.Thr451Met
XM_011519030.3:c.704C>T	XP_011517332.1:p.Thr235Met
XM_017015134.1:c.2906C>T	XP_016870623.1:p.Thr969Met
XM_017015136.2:c.2822C>T	XP_016870625.1:p.Thr941Met
XM_017015137.1:c.2807C>T	XP_016870626.1:p.Thr936Met
XM_017015138.1:c.2807C>T	XP_016870627.1:p.Thr936Met
XM_024447674.1:c.2750C>T	XP_024303442.1:p.Thr917Met
XM_024447675.1:c.2684C>T	XP_024303443.1:p.Thr895Met
XM_024447676.1:c.2045C>T	XP_024303444.1:p.Thr682Met
XM_024447677.1:c.2045C>T	XP_024303445.1:p.Thr682Met
XM_024447680.1:c.2663C>T	XP_024303448.1:p.Thr888Met
NM_024757.5:c.2921C>T MANE Select	NP_079033.4:p.Thr974Met
NM_001354263.2:c.2900C>T	NP_001341192.1:p.Thr967Met