Canonical Allele Identifier: CA5374765

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1095705
• ClinVar RCV Id: RCV001416719
• dbSNP Id: rs374533940
• ExAC: 9:140671243 C / T
• gnomAD v2: 9-140671243-C-T
• gnomAD v3: 9-137776791-C-T
• gnomAD v4: 9-137776791-C-T
• MyVariant Identifiers: chr9:g.140671243C>T (hg19) ; chr9:g.137776791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776791C>T , CM000671.2:g.137776791C>T	GRCh38
NC_000009.11:g.140671243C>T , CM000671.1:g.140671243C>T	GRCh37
NC_000009.10:g.139791064C>T	NCBI36
NG_011776.1:g.162800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1965C>T MANE Select	ENSP00000417980.1:p.Pro655=
ENST00000636027.1:c.1851C>T	ENSP00000489961.1:p.Pro617=
ENST00000637161.1:c.1872C>T	ENSP00000490328.1:p.Pro624=
ENST00000637261.1:c.2005C>T	ENSP00000490815.1:n.2005C>T
ENST00000638071.1:c.1592C>T
ENST00000640639.1:c.1134C>T	ENSP00000491823.1:p.Pro378=
ENST00000371394.6:c.*1700C>T	ENSP00000485945.1:n.*1700C>T
ENST00000460843.5:c.1965C>T	ENSP00000417980.1:p.Pro655=
ENST00000462484.5:c.1965C>T	ENSP00000417328.1:p.Pro655=
ENST00000462942.3:c.822C>T	ENSP00000436107.1:p.Pro274=
ENST00000626603.1:n.1658G>A
NM_001145527.1:c.1965C>T	NP_001138999.1:p.Pro655=
NM_024757.4:c.1965C>T	NP_079033.4:p.Pro655=
XM_005266105.3:c.1956C>T	XP_005266162.1:p.Pro652=
XM_005266110.1:c.1872C>T	XP_005266167.1:p.Pro624=
XM_006717288.2:c.1947C>T	XP_006717351.1:p.Pro649=
XM_011519021.1:c.1974C>T	XP_011517323.1:p.Pro658=
XM_011519022.1:c.1971C>T	XP_011517324.1:p.Pro657=
XM_011519023.1:c.1953C>T	XP_011517325.1:p.Pro651=
XM_011519024.1:c.1896C>T	XP_011517326.1:p.Pro632=
XM_011519025.1:c.1872C>T	XP_011517327.1:p.Pro624=
XM_011519026.1:c.1830C>T	XP_011517328.1:p.Pro610=
XM_011519027.1:c.1974C>T	XP_011517329.1:p.Pro658=
XM_011519028.1:c.1974C>T	XP_011517330.1:p.Pro658=
XM_011519029.1:c.396C>T	XP_011517331.1:p.Pro132=
XM_011519033.1:c.1809C>T	XP_011517335.1:p.Pro603=
NM_001354259.1:c.1872C>T	NP_001341188.1:p.Pro624=
NM_001354263.1:c.1944C>T	NP_001341192.1:p.Pro648=
XM_005266105.5:c.1956C>T	XP_005266162.1:p.Pro652=
XM_011519021.3:c.1974C>T	XP_011517323.1:p.Pro658=
XM_011519022.3:c.1971C>T	XP_011517324.1:p.Pro657=
XM_011519023.3:c.1953C>T	XP_011517325.1:p.Pro651=
XM_011519029.3:c.396C>T	XP_011517331.1:p.Pro132=
XM_017015134.1:c.1950C>T	XP_016870623.1:p.Pro650=
XM_017015136.2:c.1866C>T	XP_016870625.1:p.Pro622=
XM_017015137.1:c.1851C>T	XP_016870626.1:p.Pro617=
XM_017015138.1:c.1851C>T	XP_016870627.1:p.Pro617=
XM_024447674.1:c.1794C>T	XP_024303442.1:p.Pro598=
XM_024447675.1:c.1728C>T	XP_024303443.1:p.Pro576=
XM_024447676.1:c.1089C>T	XP_024303444.1:p.Pro363=
XM_024447677.1:c.1089C>T	XP_024303445.1:p.Pro363=
XM_024447678.1:c.1872C>T	XP_024303446.1:p.Pro624=
XM_024447679.1:c.1872C>T	XP_024303447.1:p.Pro624=
XM_024447680.1:c.1707C>T	XP_024303448.1:p.Pro569=
NM_024757.5:c.1965C>T MANE Select	NP_079033.4:p.Pro655=
NM_001145527.2:c.1965C>T	NP_001138999.1:p.Pro655=
NM_001354259.2:c.1872C>T	NP_001341188.1:p.Pro624=
NM_001354263.2:c.1944C>T	NP_001341192.1:p.Pro648=