Canonical Allele Identifier: CA591241121

Gene: EHMT1

Linked Data

• dbSNP Id: rs1382634984
• gnomAD v2: 9-140657079-T-G
• gnomAD v4: 9-137762627-T-G
• MyVariant Identifiers: chr9:g.140657079T>G (hg19) ; chr9:g.137762627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762627T>G , CM000671.2:g.137762627T>G	GRCh38
NC_000009.11:g.140657079T>G , CM000671.1:g.140657079T>G	GRCh37
NC_000009.10:g.139776900T>G	NCBI36
NG_011776.1:g.148636T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1502-48T>G MANE Select	ENSP00000417980.1:n.1502-48T>G
ENST00000629335.2:c.1502-48T>G	ENSP00000490056.1:n.1502-48T>G
ENST00000636027.1:c.1388-48T>G	ENSP00000489961.1:n.1388-48T>G
ENST00000637161.1:c.1409-48T>G	ENSP00000490328.1:n.1409-48T>G
ENST00000637261.1:c.1542-48T>G	ENSP00000490815.1:n.1542-48T>G
ENST00000637977.1:c.1447-48T>G
ENST00000638071.1:c.1129-48T>G
ENST00000640639.1:c.671-48T>G	ENSP00000491823.1:n.671-48T>G
ENST00000371394.6:c.*1237-48T>G	ENSP00000485945.1:n.*1237-48T>G
ENST00000460843.5:c.1502-48T>G	ENSP00000417980.1:n.1502-48T>G
ENST00000462484.5:c.1502-48T>G	ENSP00000417328.1:n.1502-48T>G
ENST00000462942.3:c.359-48T>G	ENSP00000436107.1:n.359-48T>G
ENST00000465566.2:c.194-48T>G	ENSP00000486261.1:n.194-48T>G
ENST00000629808.2:c.595-48T>G
NM_001145527.1:c.1502-48T>G	NP_001138999.1:n.1502-48T>G
NM_024757.4:c.1502-48T>G	NP_079033.4:n.1502-48T>G
XM_005266105.3:c.1493-48T>G	XP_005266162.1:n.1493-48T>G
XM_005266110.1:c.1409-48T>G	XP_005266167.1:n.1409-48T>G
XM_006717288.2:c.1484-48T>G	XP_006717351.1:n.1484-48T>G
XM_011519021.1:c.1511-48T>G	XP_011517323.1:n.1511-48T>G
XM_011519022.1:c.1508-48T>G	XP_011517324.1:n.1508-48T>G
XM_011519023.1:c.1490-48T>G	XP_011517325.1:n.1490-48T>G
XM_011519024.1:c.1433-48T>G	XP_011517326.1:n.1433-48T>G
XM_011519025.1:c.1409-48T>G	XP_011517327.1:n.1409-48T>G
XM_011519026.1:c.1511-48T>G	XP_011517328.1:n.1511-48T>G
XM_011519027.1:c.1511-48T>G	XP_011517329.1:n.1511-48T>G
XM_011519028.1:c.1511-48T>G	XP_011517330.1:n.1511-48T>G
XM_011519029.1:c.-68-48T>G	XP_011517331.1:n.-68-48T>G
XM_011519033.1:c.1490-48T>G	XP_011517335.1:n.1490-48T>G
NM_001354259.1:c.1409-48T>G	NP_001341188.1:n.1409-48T>G
NM_001354263.1:c.1481-48T>G	NP_001341192.1:n.1481-48T>G
NM_001354611.1:c.1502-48T>G	NP_001341540.1:n.1502-48T>G
NM_001354612.1:c.1409-48T>G	NP_001341541.1:n.1409-48T>G
XM_005266105.5:c.1493-48T>G	XP_005266162.1:n.1493-48T>G
XM_011519021.3:c.1511-48T>G	XP_011517323.1:n.1511-48T>G
XM_011519022.3:c.1508-48T>G	XP_011517324.1:n.1508-48T>G
XM_011519023.3:c.1490-48T>G	XP_011517325.1:n.1490-48T>G
XM_011519029.3:c.-68-48T>G	XP_011517331.1:n.-68-48T>G
XM_017015134.1:c.1487-48T>G	XP_016870623.1:n.1487-48T>G
XM_017015136.2:c.1403-48T>G	XP_016870625.1:n.1403-48T>G
XM_017015137.1:c.1388-48T>G	XP_016870626.1:n.1388-48T>G
XM_017015138.1:c.1388-48T>G	XP_016870627.1:n.1388-48T>G
XM_024447674.1:c.1331-48T>G	XP_024303442.1:n.1331-48T>G
XM_024447675.1:c.1409-48T>G	XP_024303443.1:n.1409-48T>G
XM_024447676.1:c.626-48T>G	XP_024303444.1:n.626-48T>G
XM_024447677.1:c.626-48T>G	XP_024303445.1:n.626-48T>G
XM_024447678.1:c.1409-48T>G	XP_024303446.1:n.1409-48T>G
XM_024447679.1:c.1409-48T>G	XP_024303447.1:n.1409-48T>G
XM_024447680.1:c.1388-48T>G	XP_024303448.1:n.1388-48T>G
NM_024757.5:c.1502-48T>G MANE Select	NP_079033.4:n.1502-48T>G
NM_001145527.2:c.1502-48T>G	NP_001138999.1:n.1502-48T>G
NM_001354259.2:c.1409-48T>G	NP_001341188.1:n.1409-48T>G
NM_001354263.2:c.1481-48T>G	NP_001341192.1:n.1481-48T>G
NM_001354611.2:c.1502-48T>G	NP_001341540.1:n.1502-48T>G
NM_001354612.2:c.1409-48T>G	NP_001341541.1:n.1409-48T>G