Canonical Allele Identifier: CA340104

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 3608
• ClinVar RCV Id: RCV000003792
• dbSNP Id: rs137852714
• MyVariant Identifiers: chr9:g.140637870C>T (hg19) ; chr9:g.137743418C>T (hg38)
• PubMed: PMID:19264732 ; PMID:20945554

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137743418C>T , CM000671.2:g.137743418C>T	GRCh38
NC_000009.11:g.140637870C>T , CM000671.1:g.140637870C>T	GRCh37
NC_000009.10:g.139757691C>T	NCBI36
NG_011776.1:g.129427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.871C>T MANE Select	ENSP00000417980.1:p.Arg291Ter
ENST00000629335.2:c.871C>T	ENSP00000490056.1:p.Arg291Ter
ENST00000636027.1:c.757C>T	ENSP00000489961.1:p.Arg253Ter
ENST00000637161.1:c.778C>T	ENSP00000490328.1:p.Arg260Ter
ENST00000637261.1:c.911C>T	ENSP00000490815.1:n.911C>T
ENST00000637318.1:c.-6C>T	ENSP00000490611.1:n.-6C>T
ENST00000637977.1:c.816C>T
ENST00000638071.1:c.576C>T
ENST00000640639.1:c.40C>T	ENSP00000491823.1:p.Arg14Ter
ENST00000371394.6:c.*606C>T	ENSP00000485945.1:n.*606C>T
ENST00000460843.5:c.871C>T	ENSP00000417980.1:p.Arg291Ter
ENST00000462484.5:c.871C>T	ENSP00000417328.1:p.Arg291Ter
ENST00000478940.1:n.162C>T
ENST00000495657.5:n.221C>T
ENST00000626066.2:c.774C>T
ENST00000629808.2:c.42C>T
NM_001145527.1:c.871C>T	NP_001138999.1:p.Arg291Ter
NM_024757.4:c.871C>T	NP_079033.4:p.Arg291Ter
XM_005266105.3:c.862C>T	XP_005266162.1:p.Arg288Ter
XM_005266110.1:c.778C>T	XP_005266167.1:p.Arg260Ter
XM_006717288.2:c.853C>T	XP_006717351.1:p.Arg285Ter
XM_011519021.1:c.880C>T	XP_011517323.1:p.Arg294Ter
XM_011519022.1:c.877C>T	XP_011517324.1:p.Arg293Ter
XM_011519023.1:c.859C>T	XP_011517325.1:p.Arg287Ter
XM_011519024.1:c.880C>T	XP_011517326.1:p.Arg294Ter
XM_011519025.1:c.778C>T	XP_011517327.1:p.Arg260Ter
XM_011519026.1:c.880C>T	XP_011517328.1:p.Arg294Ter
XM_011519027.1:c.880C>T	XP_011517329.1:p.Arg294Ter
XM_011519028.1:c.880C>T	XP_011517330.1:p.Arg294Ter
XM_011519033.1:c.859C>T	XP_011517335.1:p.Arg287Ter
NM_001354259.1:c.778C>T	NP_001341188.1:p.Arg260Ter
NM_001354263.1:c.850C>T	NP_001341192.1:p.Arg284Ter
NM_001354611.1:c.871C>T	NP_001341540.1:p.Arg291Ter
NM_001354612.1:c.778C>T	NP_001341541.1:p.Arg260Ter
XM_005266105.5:c.862C>T	XP_005266162.1:p.Arg288Ter
XM_011519021.3:c.880C>T	XP_011517323.1:p.Arg294Ter
XM_011519022.3:c.877C>T	XP_011517324.1:p.Arg293Ter
XM_011519023.3:c.859C>T	XP_011517325.1:p.Arg287Ter
XM_017015134.1:c.856C>T	XP_016870623.1:p.Arg286Ter
XM_017015136.2:c.850C>T	XP_016870625.1:p.Arg284Ter
XM_017015137.1:c.757C>T	XP_016870626.1:p.Arg253Ter
XM_017015138.1:c.757C>T	XP_016870627.1:p.Arg253Ter
XM_024447674.1:c.778C>T	XP_024303442.1:p.Arg260Ter
XM_024447675.1:c.778C>T	XP_024303443.1:p.Arg260Ter
XM_024447676.1:c.-6C>T	XP_024303444.1:n.-6C>T
XM_024447677.1:c.-6C>T	XP_024303445.1:n.-6C>T
XM_024447678.1:c.778C>T	XP_024303446.1:p.Arg260Ter
XM_024447679.1:c.778C>T	XP_024303447.1:p.Arg260Ter
XM_024447680.1:c.757C>T	XP_024303448.1:p.Arg253Ter
NM_024757.5:c.871C>T MANE Select	NP_079033.4:p.Arg291Ter
NM_001145527.2:c.871C>T	NP_001138999.1:p.Arg291Ter
NM_001354259.2:c.778C>T	NP_001341188.1:p.Arg260Ter
NM_001354263.2:c.850C>T	NP_001341192.1:p.Arg284Ter
NM_001354611.2:c.871C>T	NP_001341540.1:p.Arg291Ter
NM_001354612.2:c.778C>T	NP_001341541.1:p.Arg260Ter