Canonical Allele Identifier: CA5374764

Gene: EHMT1

Linked Data

• dbSNP Id: rs747062008
• ExAC: 9:140671240 C / A
• gnomAD v2: 9-140671240-C-A
• gnomAD v3: 9-137776788-C-A
• gnomAD v4: 9-137776788-C-A
• MyVariant Identifiers: chr9:g.140671240C>A (hg19) ; chr9:g.137776788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776788C>A , CM000671.2:g.137776788C>A	GRCh38
NC_000009.11:g.140671240C>A , CM000671.1:g.140671240C>A	GRCh37
NC_000009.10:g.139791061C>A	NCBI36
NG_011776.1:g.162797C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1962C>A MANE Select	ENSP00000417980.1:p.Val654=
ENST00000636027.1:c.1848C>A	ENSP00000489961.1:p.Val616=
ENST00000637161.1:c.1869C>A	ENSP00000490328.1:p.Val623=
ENST00000637261.1:c.2002C>A	ENSP00000490815.1:n.2002C>A
ENST00000638071.1:c.1589C>A
ENST00000640639.1:c.1131C>A	ENSP00000491823.1:p.Val377=
ENST00000371394.6:c.*1697C>A	ENSP00000485945.1:n.*1697C>A
ENST00000460843.5:c.1962C>A	ENSP00000417980.1:p.Val654=
ENST00000462484.5:c.1962C>A	ENSP00000417328.1:p.Val654=
ENST00000462942.3:c.819C>A	ENSP00000436107.1:p.Val273=
ENST00000626603.1:n.1661G>T
NM_001145527.1:c.1962C>A	NP_001138999.1:p.Val654=
NM_024757.4:c.1962C>A	NP_079033.4:p.Val654=
XM_005266105.3:c.1953C>A	XP_005266162.1:p.Val651=
XM_005266110.1:c.1869C>A	XP_005266167.1:p.Val623=
XM_006717288.2:c.1944C>A	XP_006717351.1:p.Val648=
XM_011519021.1:c.1971C>A	XP_011517323.1:p.Val657=
XM_011519022.1:c.1968C>A	XP_011517324.1:p.Val656=
XM_011519023.1:c.1950C>A	XP_011517325.1:p.Val650=
XM_011519024.1:c.1893C>A	XP_011517326.1:p.Val631=
XM_011519025.1:c.1869C>A	XP_011517327.1:p.Val623=
XM_011519026.1:c.1827C>A	XP_011517328.1:p.Val609=
XM_011519027.1:c.1971C>A	XP_011517329.1:p.Val657=
XM_011519028.1:c.1971C>A	XP_011517330.1:p.Val657=
XM_011519029.1:c.393C>A	XP_011517331.1:p.Val131=
XM_011519033.1:c.1806C>A	XP_011517335.1:p.Val602=
NM_001354259.1:c.1869C>A	NP_001341188.1:p.Val623=
NM_001354263.1:c.1941C>A	NP_001341192.1:p.Val647=
XM_005266105.5:c.1953C>A	XP_005266162.1:p.Val651=
XM_011519021.3:c.1971C>A	XP_011517323.1:p.Val657=
XM_011519022.3:c.1968C>A	XP_011517324.1:p.Val656=
XM_011519023.3:c.1950C>A	XP_011517325.1:p.Val650=
XM_011519029.3:c.393C>A	XP_011517331.1:p.Val131=
XM_017015134.1:c.1947C>A	XP_016870623.1:p.Val649=
XM_017015136.2:c.1863C>A	XP_016870625.1:p.Val621=
XM_017015137.1:c.1848C>A	XP_016870626.1:p.Val616=
XM_017015138.1:c.1848C>A	XP_016870627.1:p.Val616=
XM_024447674.1:c.1791C>A	XP_024303442.1:p.Val597=
XM_024447675.1:c.1725C>A	XP_024303443.1:p.Val575=
XM_024447676.1:c.1086C>A	XP_024303444.1:p.Val362=
XM_024447677.1:c.1086C>A	XP_024303445.1:p.Val362=
XM_024447678.1:c.1869C>A	XP_024303446.1:p.Val623=
XM_024447679.1:c.1869C>A	XP_024303447.1:p.Val623=
XM_024447680.1:c.1704C>A	XP_024303448.1:p.Val568=
NM_024757.5:c.1962C>A MANE Select	NP_079033.4:p.Val654=
NM_001145527.2:c.1962C>A	NP_001138999.1:p.Val654=
NM_001354259.2:c.1869C>A	NP_001341188.1:p.Val623=
NM_001354263.2:c.1941C>A	NP_001341192.1:p.Val647=