Canonical Allele Identifier: CA5374758

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1672877
• ClinVar RCV Id: RCV002210783
• dbSNP Id: rs767536068
• ExAC: 9:140671209 A / C
• gnomAD v2: 9-140671209-A-C
• gnomAD v3: 9-137776757-A-C
• gnomAD v4: 9-137776757-A-C
• MyVariant Identifiers: chr9:g.140671209A>C (hg19) ; chr9:g.137776757A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776757A>C , CM000671.2:g.137776757A>C	GRCh38
NC_000009.11:g.140671209A>C , CM000671.1:g.140671209A>C	GRCh37
NC_000009.10:g.139791030A>C	NCBI36
NG_011776.1:g.162766A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1931A>C MANE Select	ENSP00000417980.1:p.Lys644Thr
ENST00000636027.1:c.1817A>C	ENSP00000489961.1:p.Lys606Thr
ENST00000637161.1:c.1838A>C	ENSP00000490328.1:p.Lys613Thr
ENST00000637261.1:c.1971A>C	ENSP00000490815.1:n.1971A>C
ENST00000638071.1:c.1558A>C
ENST00000640639.1:c.1100A>C	ENSP00000491823.1:p.Lys367Thr
ENST00000371394.6:c.*1666A>C	ENSP00000485945.1:n.*1666A>C
ENST00000460843.5:c.1931A>C	ENSP00000417980.1:p.Lys644Thr
ENST00000462484.5:c.1931A>C	ENSP00000417328.1:p.Lys644Thr
ENST00000462942.3:c.788A>C	ENSP00000436107.1:p.Lys263Thr
ENST00000465566.2:c.479A>C	ENSP00000486261.1:p.Lys160Thr
ENST00000626603.1:n.1692T>G
NM_001145527.1:c.1931A>C	NP_001138999.1:p.Lys644Thr
NM_024757.4:c.1931A>C	NP_079033.4:p.Lys644Thr
XM_005266105.3:c.1922A>C	XP_005266162.1:p.Lys641Thr
XM_005266110.1:c.1838A>C	XP_005266167.1:p.Lys613Thr
XM_006717288.2:c.1913A>C	XP_006717351.1:p.Lys638Thr
XM_011519021.1:c.1940A>C	XP_011517323.1:p.Lys647Thr
XM_011519022.1:c.1937A>C	XP_011517324.1:p.Lys646Thr
XM_011519023.1:c.1919A>C	XP_011517325.1:p.Lys640Thr
XM_011519024.1:c.1862A>C	XP_011517326.1:p.Lys621Thr
XM_011519025.1:c.1838A>C	XP_011517327.1:p.Lys613Thr
XM_011519026.1:c.1796A>C	XP_011517328.1:p.Lys599Thr
XM_011519027.1:c.1940A>C	XP_011517329.1:p.Lys647Thr
XM_011519028.1:c.1940A>C	XP_011517330.1:p.Lys647Thr
XM_011519029.1:c.362A>C	XP_011517331.1:p.Lys121Thr
XM_011519033.1:c.1775A>C	XP_011517335.1:p.Lys592Thr
NM_001354259.1:c.1838A>C	NP_001341188.1:p.Lys613Thr
NM_001354263.1:c.1910A>C	NP_001341192.1:p.Lys637Thr
XM_005266105.5:c.1922A>C	XP_005266162.1:p.Lys641Thr
XM_011519021.3:c.1940A>C	XP_011517323.1:p.Lys647Thr
XM_011519022.3:c.1937A>C	XP_011517324.1:p.Lys646Thr
XM_011519023.3:c.1919A>C	XP_011517325.1:p.Lys640Thr
XM_011519029.3:c.362A>C	XP_011517331.1:p.Lys121Thr
XM_017015134.1:c.1916A>C	XP_016870623.1:p.Lys639Thr
XM_017015136.2:c.1832A>C	XP_016870625.1:p.Lys611Thr
XM_017015137.1:c.1817A>C	XP_016870626.1:p.Lys606Thr
XM_017015138.1:c.1817A>C	XP_016870627.1:p.Lys606Thr
XM_024447674.1:c.1760A>C	XP_024303442.1:p.Lys587Thr
XM_024447675.1:c.1694A>C	XP_024303443.1:p.Lys565Thr
XM_024447676.1:c.1055A>C	XP_024303444.1:p.Lys352Thr
XM_024447677.1:c.1055A>C	XP_024303445.1:p.Lys352Thr
XM_024447678.1:c.1838A>C	XP_024303446.1:p.Lys613Thr
XM_024447679.1:c.1838A>C	XP_024303447.1:p.Lys613Thr
XM_024447680.1:c.1673A>C	XP_024303448.1:p.Lys558Thr
NM_024757.5:c.1931A>C MANE Select	NP_079033.4:p.Lys644Thr
NM_001145527.2:c.1931A>C	NP_001138999.1:p.Lys644Thr
NM_001354259.2:c.1838A>C	NP_001341188.1:p.Lys613Thr
NM_001354263.2:c.1910A>C	NP_001341192.1:p.Lys637Thr