Canonical Allele Identifier: CA375776898

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137776808-C-G
• MyVariant Identifiers: chr9:g.140671260C>G (hg19) ; chr9:g.137776808C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776808C>G , CM000671.2:g.137776808C>G	GRCh38
NC_000009.11:g.140671260C>G , CM000671.1:g.140671260C>G	GRCh37
NC_000009.10:g.139791081C>G	NCBI36
NG_011776.1:g.162817C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1982C>G MANE Select	ENSP00000417980.1:p.Ser661Trp
ENST00000636027.1:c.1868C>G	ENSP00000489961.1:p.Ser623Trp
ENST00000637161.1:c.1889C>G	ENSP00000490328.1:p.Ser630Trp
ENST00000637261.1:c.2022C>G	ENSP00000490815.1:n.2022C>G
ENST00000638071.1:c.1609C>G
ENST00000640639.1:c.1151C>G	ENSP00000491823.1:p.Ser384Trp
ENST00000371394.6:c.*1717C>G	ENSP00000485945.1:n.*1717C>G
ENST00000460843.5:c.1982C>G	ENSP00000417980.1:p.Ser661Trp
ENST00000462484.5:c.1982C>G	ENSP00000417328.1:p.Ser661Trp
ENST00000462942.3:c.839C>G	ENSP00000436107.1:p.Ser280Trp
ENST00000626603.1:n.1641G>C
NM_001145527.1:c.1982C>G	NP_001138999.1:p.Ser661Trp
NM_024757.4:c.1982C>G	NP_079033.4:p.Ser661Trp
XM_005266105.3:c.1973C>G	XP_005266162.1:p.Ser658Trp
XM_005266110.1:c.1889C>G	XP_005266167.1:p.Ser630Trp
XM_006717288.2:c.1964C>G	XP_006717351.1:p.Ser655Trp
XM_011519021.1:c.1991C>G	XP_011517323.1:p.Ser664Trp
XM_011519022.1:c.1988C>G	XP_011517324.1:p.Ser663Trp
XM_011519023.1:c.1970C>G	XP_011517325.1:p.Ser657Trp
XM_011519024.1:c.1913C>G	XP_011517326.1:p.Ser638Trp
XM_011519025.1:c.1889C>G	XP_011517327.1:p.Ser630Trp
XM_011519026.1:c.1847C>G	XP_011517328.1:p.Ser616Trp
XM_011519027.1:c.1991C>G	XP_011517329.1:p.Ser664Trp
XM_011519028.1:c.1991C>G	XP_011517330.1:p.Ser664Trp
XM_011519029.1:c.413C>G	XP_011517331.1:p.Ser138Trp
XM_011519033.1:c.1826C>G	XP_011517335.1:p.Ser609Trp
NM_001354259.1:c.1889C>G	NP_001341188.1:p.Ser630Trp
NM_001354263.1:c.1961C>G	NP_001341192.1:p.Ser654Trp
XM_005266105.5:c.1973C>G	XP_005266162.1:p.Ser658Trp
XM_011519021.3:c.1991C>G	XP_011517323.1:p.Ser664Trp
XM_011519022.3:c.1988C>G	XP_011517324.1:p.Ser663Trp
XM_011519023.3:c.1970C>G	XP_011517325.1:p.Ser657Trp
XM_011519029.3:c.413C>G	XP_011517331.1:p.Ser138Trp
XM_017015134.1:c.1967C>G	XP_016870623.1:p.Ser656Trp
XM_017015136.2:c.1883C>G	XP_016870625.1:p.Ser628Trp
XM_017015137.1:c.1868C>G	XP_016870626.1:p.Ser623Trp
XM_017015138.1:c.1868C>G	XP_016870627.1:p.Ser623Trp
XM_024447674.1:c.1811C>G	XP_024303442.1:p.Ser604Trp
XM_024447675.1:c.1745C>G	XP_024303443.1:p.Ser582Trp
XM_024447676.1:c.1106C>G	XP_024303444.1:p.Ser369Trp
XM_024447677.1:c.1106C>G	XP_024303445.1:p.Ser369Trp
XM_024447678.1:c.1889C>G	XP_024303446.1:p.Ser630Trp
XM_024447679.1:c.1889C>G	XP_024303447.1:p.Ser630Trp
XM_024447680.1:c.1724C>G	XP_024303448.1:p.Ser575Trp
NM_024757.5:c.1982C>G MANE Select	NP_079033.4:p.Ser661Trp
NM_001145527.2:c.1982C>G	NP_001138999.1:p.Ser661Trp
NM_001354259.2:c.1889C>G	NP_001341188.1:p.Ser630Trp
NM_001354263.2:c.1961C>G	NP_001341192.1:p.Ser654Trp