Canonical Allele Identifier: CA2580080984

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2028893
• ClinVar RCV Id: RCV002863638

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137758014G>C , CM000671.2:g.137758014G>C	GRCh38
NC_000009.11:g.140652466G>C , CM000671.1:g.140652466G>C	GRCh37
NC_000009.10:g.139772287G>C	NCBI36
NG_011776.1:g.144023G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1501+3G>C MANE Select	ENSP00000417980.1:n.1501+3G>C
ENST00000629335.2:c.1501+3G>C	ENSP00000490056.1:n.1501+3G>C
ENST00000636027.1:c.1387+3G>C	ENSP00000489961.1:n.1387+3G>C
ENST00000637161.1:c.1408+3G>C	ENSP00000490328.1:n.1408+3G>C
ENST00000637261.1:c.1541+3G>C	ENSP00000490815.1:n.1541+3G>C
ENST00000637977.1:c.1446+3G>C
ENST00000638071.1:c.1128+3G>C
ENST00000640639.1:c.670+3G>C	ENSP00000491823.1:n.670+3G>C
ENST00000371394.6:c.*1236+3G>C	ENSP00000485945.1:n.*1236+3G>C
ENST00000460843.5:c.1501+3G>C	ENSP00000417980.1:n.1501+3G>C
ENST00000462484.5:c.1501+3G>C	ENSP00000417328.1:n.1501+3G>C
ENST00000462942.3:c.358+3G>C	ENSP00000436107.1:n.358+3G>C
ENST00000465566.2:c.193+3G>C	ENSP00000486261.1:n.193+3G>C
ENST00000629808.2:c.594+3G>C
NM_001145527.1:c.1501+3G>C	NP_001138999.1:n.1501+3G>C
NM_024757.4:c.1501+3G>C	NP_079033.4:n.1501+3G>C
XM_005266105.3:c.1492+3G>C	XP_005266162.1:n.1492+3G>C
XM_005266110.1:c.1408+3G>C	XP_005266167.1:n.1408+3G>C
XM_006717288.2:c.1483+3G>C	XP_006717351.1:n.1483+3G>C
XM_011519021.1:c.1510+3G>C	XP_011517323.1:n.1510+3G>C
XM_011519022.1:c.1507+3G>C	XP_011517324.1:n.1507+3G>C
XM_011519023.1:c.1489+3G>C	XP_011517325.1:n.1489+3G>C
XM_011519024.1:c.1432+3G>C	XP_011517326.1:n.1432+3G>C
XM_011519025.1:c.1408+3G>C	XP_011517327.1:n.1408+3G>C
XM_011519026.1:c.1510+3G>C	XP_011517328.1:n.1510+3G>C
XM_011519027.1:c.1510+3G>C	XP_011517329.1:n.1510+3G>C
XM_011519028.1:c.1510+3G>C	XP_011517330.1:n.1510+3G>C
XM_011519033.1:c.1489+3G>C	XP_011517335.1:n.1489+3G>C
NM_001354259.1:c.1408+3G>C	NP_001341188.1:n.1408+3G>C
NM_001354263.1:c.1480+3G>C	NP_001341192.1:n.1480+3G>C
NM_001354611.1:c.1501+3G>C	NP_001341540.1:n.1501+3G>C
NM_001354612.1:c.1408+3G>C	NP_001341541.1:n.1408+3G>C
XM_005266105.5:c.1492+3G>C	XP_005266162.1:n.1492+3G>C
XM_011519021.3:c.1510+3G>C	XP_011517323.1:n.1510+3G>C
XM_011519022.3:c.1507+3G>C	XP_011517324.1:n.1507+3G>C
XM_011519023.3:c.1489+3G>C	XP_011517325.1:n.1489+3G>C
XM_017015134.1:c.1486+3G>C	XP_016870623.1:n.1486+3G>C
XM_017015136.2:c.1402+3G>C	XP_016870625.1:n.1402+3G>C
XM_017015137.1:c.1387+3G>C	XP_016870626.1:n.1387+3G>C
XM_017015138.1:c.1387+3G>C	XP_016870627.1:n.1387+3G>C
XM_024447674.1:c.1330+3G>C	XP_024303442.1:n.1330+3G>C
XM_024447675.1:c.1408+3G>C	XP_024303443.1:n.1408+3G>C
XM_024447676.1:c.625+3G>C	XP_024303444.1:n.625+3G>C
XM_024447677.1:c.625+3G>C	XP_024303445.1:n.625+3G>C
XM_024447678.1:c.1408+3G>C	XP_024303446.1:n.1408+3G>C
XM_024447679.1:c.1408+3G>C	XP_024303447.1:n.1408+3G>C
XM_024447680.1:c.1387+3G>C	XP_024303448.1:n.1387+3G>C
NM_024757.5:c.1501+3G>C MANE Select	NP_079033.4:n.1501+3G>C
NM_001145527.2:c.1501+3G>C	NP_001138999.1:n.1501+3G>C
NM_001354259.2:c.1408+3G>C	NP_001341188.1:n.1408+3G>C
NM_001354263.2:c.1480+3G>C	NP_001341192.1:n.1480+3G>C
NM_001354611.2:c.1501+3G>C	NP_001341540.1:n.1501+3G>C
NM_001354612.2:c.1408+3G>C	NP_001341541.1:n.1408+3G>C