Canonical Allele Identifier: CA375776873

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2499942
• ClinVar RCV Id: RCV003224034
• dbSNP Id: rs1237428523
• gnomAD v3: 9-137776802-A-G
• gnomAD v4: 9-137776802-A-G
• MyVariant Identifiers: chr9:g.140671254A>G (hg19) ; chr9:g.137776802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776802A>G , CM000671.2:g.137776802A>G	GRCh38
NC_000009.11:g.140671254A>G , CM000671.1:g.140671254A>G	GRCh37
NC_000009.10:g.139791075A>G	NCBI36
NG_011776.1:g.162811A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1976A>G MANE Select	ENSP00000417980.1:p.Lys659Arg
ENST00000636027.1:c.1862A>G	ENSP00000489961.1:p.Lys621Arg
ENST00000637161.1:c.1883A>G	ENSP00000490328.1:p.Lys628Arg
ENST00000637261.1:c.2016A>G	ENSP00000490815.1:n.2016A>G
ENST00000638071.1:c.1603A>G
ENST00000640639.1:c.1145A>G	ENSP00000491823.1:p.Lys382Arg
ENST00000371394.6:c.*1711A>G	ENSP00000485945.1:n.*1711A>G
ENST00000460843.5:c.1976A>G	ENSP00000417980.1:p.Lys659Arg
ENST00000462484.5:c.1976A>G	ENSP00000417328.1:p.Lys659Arg
ENST00000462942.3:c.833A>G	ENSP00000436107.1:p.Lys278Arg
ENST00000626603.1:n.1647T>C
NM_001145527.1:c.1976A>G	NP_001138999.1:p.Lys659Arg
NM_024757.4:c.1976A>G	NP_079033.4:p.Lys659Arg
XM_005266105.3:c.1967A>G	XP_005266162.1:p.Lys656Arg
XM_005266110.1:c.1883A>G	XP_005266167.1:p.Lys628Arg
XM_006717288.2:c.1958A>G	XP_006717351.1:p.Lys653Arg
XM_011519021.1:c.1985A>G	XP_011517323.1:p.Lys662Arg
XM_011519022.1:c.1982A>G	XP_011517324.1:p.Lys661Arg
XM_011519023.1:c.1964A>G	XP_011517325.1:p.Lys655Arg
XM_011519024.1:c.1907A>G	XP_011517326.1:p.Lys636Arg
XM_011519025.1:c.1883A>G	XP_011517327.1:p.Lys628Arg
XM_011519026.1:c.1841A>G	XP_011517328.1:p.Lys614Arg
XM_011519027.1:c.1985A>G	XP_011517329.1:p.Lys662Arg
XM_011519028.1:c.1985A>G	XP_011517330.1:p.Lys662Arg
XM_011519029.1:c.407A>G	XP_011517331.1:p.Lys136Arg
XM_011519033.1:c.1820A>G	XP_011517335.1:p.Lys607Arg
NM_001354259.1:c.1883A>G	NP_001341188.1:p.Lys628Arg
NM_001354263.1:c.1955A>G	NP_001341192.1:p.Lys652Arg
XM_005266105.5:c.1967A>G	XP_005266162.1:p.Lys656Arg
XM_011519021.3:c.1985A>G	XP_011517323.1:p.Lys662Arg
XM_011519022.3:c.1982A>G	XP_011517324.1:p.Lys661Arg
XM_011519023.3:c.1964A>G	XP_011517325.1:p.Lys655Arg
XM_011519029.3:c.407A>G	XP_011517331.1:p.Lys136Arg
XM_017015134.1:c.1961A>G	XP_016870623.1:p.Lys654Arg
XM_017015136.2:c.1877A>G	XP_016870625.1:p.Lys626Arg
XM_017015137.1:c.1862A>G	XP_016870626.1:p.Lys621Arg
XM_017015138.1:c.1862A>G	XP_016870627.1:p.Lys621Arg
XM_024447674.1:c.1805A>G	XP_024303442.1:p.Lys602Arg
XM_024447675.1:c.1739A>G	XP_024303443.1:p.Lys580Arg
XM_024447676.1:c.1100A>G	XP_024303444.1:p.Lys367Arg
XM_024447677.1:c.1100A>G	XP_024303445.1:p.Lys367Arg
XM_024447678.1:c.1883A>G	XP_024303446.1:p.Lys628Arg
XM_024447679.1:c.1883A>G	XP_024303447.1:p.Lys628Arg
XM_024447680.1:c.1718A>G	XP_024303448.1:p.Lys573Arg
NM_024757.5:c.1976A>G MANE Select	NP_079033.4:p.Lys659Arg
NM_001145527.2:c.1976A>G	NP_001138999.1:p.Lys659Arg
NM_001354259.2:c.1883A>G	NP_001341188.1:p.Lys628Arg
NM_001354263.2:c.1955A>G	NP_001341192.1:p.Lys652Arg