Canonical Allele Identifier: CA375773861

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140712574T>C (hg19) ; chr9:g.137818122T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818122T>C , CM000671.2:g.137818122T>C	GRCh38
NC_000009.11:g.140712574T>C , CM000671.1:g.140712574T>C	GRCh37
NC_000009.10:g.139832395T>C	NCBI36
NG_011776.1:g.204131T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3524T>C MANE Select	ENSP00000417980.1:p.Phe1175Ser
ENST00000636472.1:n.86T>C
ENST00000636526.1:n.10T>C
ENST00000637161.1:c.3431T>C	ENSP00000490328.1:p.Phe1144Ser
ENST00000637261.1:c.4098T>C	ENSP00000490815.1:n.4098T>C
ENST00000637748.1:n.505T>C
ENST00000637891.1:c.1598T>C	ENSP00000490907.1:n.1598T>C
ENST00000460843.5:c.3524T>C	ENSP00000417980.1:p.Phe1175Ser
ENST00000462942.3:c.2381T>C	ENSP00000436107.1:p.Phe794Ser
ENST00000475564.5:n.1248T>C
ENST00000494249.5:n.877T>C
NM_024757.4:c.3524T>C	NP_079033.4:p.Phe1175Ser
XM_005266105.3:c.3515T>C	XP_005266162.1:p.Phe1172Ser
XM_005266110.1:c.3431T>C	XP_005266167.1:p.Phe1144Ser
XM_006717288.2:c.3506T>C	XP_006717351.1:p.Phe1169Ser
XM_011519021.1:c.3533T>C	XP_011517323.1:p.Phe1178Ser
XM_011519022.1:c.3530T>C	XP_011517324.1:p.Phe1177Ser
XM_011519023.1:c.3512T>C	XP_011517325.1:p.Phe1171Ser
XM_011519024.1:c.3455T>C	XP_011517326.1:p.Phe1152Ser
XM_011519025.1:c.3431T>C	XP_011517327.1:p.Phe1144Ser
XM_011519026.1:c.3389T>C	XP_011517328.1:p.Phe1130Ser
XM_011519029.1:c.1955T>C	XP_011517331.1:p.Phe652Ser
XM_011519030.1:c.1307T>C	XP_011517332.1:p.Phe436Ser
XM_011519031.1:c.1094T>C	XP_011517333.1:p.Phe365Ser
XM_011519032.1:c.1094T>C	XP_011517334.1:p.Phe365Ser
XM_011519033.1:c.3368T>C	XP_011517335.1:p.Phe1123Ser
XR_930459.1:n.5297-3560A>G
NM_001354263.1:c.3503T>C	NP_001341192.1:p.Phe1168Ser
XM_005266105.5:c.3515T>C	XP_005266162.1:p.Phe1172Ser
XM_011519021.3:c.3533T>C	XP_011517323.1:p.Phe1178Ser
XM_011519022.3:c.3530T>C	XP_011517324.1:p.Phe1177Ser
XM_011519023.3:c.3512T>C	XP_011517325.1:p.Phe1171Ser
XM_011519029.3:c.1955T>C	XP_011517331.1:p.Phe652Ser
XM_011519030.3:c.1307T>C	XP_011517332.1:p.Phe436Ser
XM_017015134.1:c.3509T>C	XP_016870623.1:p.Phe1170Ser
XM_017015136.2:c.3425T>C	XP_016870625.1:p.Phe1142Ser
XM_017015137.1:c.3410T>C	XP_016870626.1:p.Phe1137Ser
XM_017015138.1:c.3410T>C	XP_016870627.1:p.Phe1137Ser
XM_024447674.1:c.3353T>C	XP_024303442.1:p.Phe1118Ser
XM_024447675.1:c.3287T>C	XP_024303443.1:p.Phe1096Ser
XM_024447676.1:c.2648T>C	XP_024303444.1:p.Phe883Ser
XM_024447677.1:c.2648T>C	XP_024303445.1:p.Phe883Ser
XM_024447680.1:c.3266T>C	XP_024303448.1:p.Phe1089Ser
NM_024757.5:c.3524T>C MANE Select	NP_079033.4:p.Phe1175Ser
NM_001354263.2:c.3503T>C	NP_001341192.1:p.Phe1168Ser