Canonical Allele Identifier: CA345056

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 65731
• ClinVar RCV Id: RCV000055961 ; RCV000623370
• dbSNP Id: rs137852720
• MyVariant Identifiers: chr9:g.140674086G>C (hg19) ; chr9:g.137779634G>C (hg38)
• PubMed: PMID:15805155 ; PMID:16826528 ; PMID:19264732 ; PMID:20945554 ; PMID:22670141 ; PMID:22726846 ; PMID:24779060 ; PMID:26808425 ; PMID:29160022

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137779634G>C , CM000671.2:g.137779634G>C	GRCh38
NC_000009.11:g.140674086G>C , CM000671.1:g.140674086G>C	GRCh37
NC_000009.10:g.139793907G>C	NCBI36
NG_011776.1:g.165643G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2193-1G>C MANE Select	ENSP00000417980.1:n.2193-1G>C
ENST00000636027.1:c.2079-1G>C	ENSP00000489961.1:n.2079-1G>C
ENST00000637161.1:c.2100-1G>C	ENSP00000490328.1:n.2100-1G>C
ENST00000637261.1:c.2233-1G>C	ENSP00000490815.1:n.2233-1G>C
ENST00000637891.1:c.87-1G>C	ENSP00000490907.1:n.87-1G>C
ENST00000371394.6:c.*1928-1G>C	ENSP00000485945.1:n.*1928-1G>C
ENST00000460843.5:c.2193-1G>C	ENSP00000417980.1:n.2193-1G>C
ENST00000462484.5:c.2193-1G>C	ENSP00000417328.1:n.2193-1G>C
ENST00000462942.3:c.1050-1G>C	ENSP00000436107.1:n.1050-1G>C
ENST00000626603.1:n.1061-2246C>G
NM_001145527.1:c.2193-1G>C	NP_001138999.1:n.2193-1G>C
NM_024757.4:c.2193-1G>C	NP_079033.4:n.2193-1G>C
XM_005266105.3:c.2184-1G>C	XP_005266162.1:n.2184-1G>C
XM_005266110.1:c.2100-1G>C	XP_005266167.1:n.2100-1G>C
XM_006717288.2:c.2175-1G>C	XP_006717351.1:n.2175-1G>C
XM_011519021.1:c.2202-1G>C	XP_011517323.1:n.2202-1G>C
XM_011519022.1:c.2199-1G>C	XP_011517324.1:n.2199-1G>C
XM_011519023.1:c.2181-1G>C	XP_011517325.1:n.2181-1G>C
XM_011519024.1:c.2124-1G>C	XP_011517326.1:n.2124-1G>C
XM_011519025.1:c.2100-1G>C	XP_011517327.1:n.2100-1G>C
XM_011519026.1:c.2058-1G>C	XP_011517328.1:n.2058-1G>C
XM_011519027.1:c.2202-1G>C	XP_011517329.1:n.2202-1G>C
XM_011519028.1:c.2202-1G>C	XP_011517330.1:n.2202-1G>C
XM_011519029.1:c.624-1G>C	XP_011517331.1:n.624-1G>C
XM_011519033.1:c.2037-1G>C	XP_011517335.1:n.2037-1G>C
NM_001354259.1:c.2100-1G>C	NP_001341188.1:n.2100-1G>C
NM_001354263.1:c.2172-1G>C	NP_001341192.1:n.2172-1G>C
XM_005266105.5:c.2184-1G>C	XP_005266162.1:n.2184-1G>C
XM_011519021.3:c.2202-1G>C	XP_011517323.1:n.2202-1G>C
XM_011519022.3:c.2199-1G>C	XP_011517324.1:n.2199-1G>C
XM_011519023.3:c.2181-1G>C	XP_011517325.1:n.2181-1G>C
XM_011519029.3:c.624-1G>C	XP_011517331.1:n.624-1G>C
XM_017015134.1:c.2178-1G>C	XP_016870623.1:n.2178-1G>C
XM_017015136.2:c.2094-1G>C	XP_016870625.1:n.2094-1G>C
XM_017015137.1:c.2079-1G>C	XP_016870626.1:n.2079-1G>C
XM_017015138.1:c.2079-1G>C	XP_016870627.1:n.2079-1G>C
XM_024447674.1:c.2022-1G>C	XP_024303442.1:n.2022-1G>C
XM_024447675.1:c.1956-1G>C	XP_024303443.1:n.1956-1G>C
XM_024447676.1:c.1317-1G>C	XP_024303444.1:n.1317-1G>C
XM_024447677.1:c.1317-1G>C	XP_024303445.1:n.1317-1G>C
XM_024447678.1:c.2100-1G>C	XP_024303446.1:n.2100-1G>C
XM_024447679.1:c.2100-1G>C	XP_024303447.1:n.2100-1G>C
XM_024447680.1:c.1935-1G>C	XP_024303448.1:n.1935-1G>C
NM_024757.5:c.2193-1G>C MANE Select	NP_079033.4:n.2193-1G>C
NM_001145527.2:c.2193-1G>C	NP_001138999.1:n.2193-1G>C
NM_001354259.2:c.2100-1G>C	NP_001341188.1:n.2100-1G>C
NM_001354263.2:c.2172-1G>C	NP_001341192.1:n.2172-1G>C