Canonical Allele Identifier: CA345050
Gene: EHMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65728
ClinVar RCV Id: RCV000055958
dbSNP Id: rs137852717

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137776636C>T , CM000671.2:g.137776636C>T GRCh38
NC_000009.11:g.140671088C>T , CM000671.1:g.140671088C>T GRCh37
NC_000009.10:g.139790909C>T NCBI36
NG_011776.1:g.162645C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000460843.6:c.1810C>T MANE Select ENSP00000417980.1:p.Gln604Ter
ENST00000636027.1:c.1696C>T ENSP00000489961.1:p.Gln566Ter
ENST00000637161.1:c.1717C>T ENSP00000490328.1:p.Gln573Ter
ENST00000637261.1:c.1850C>T ENSP00000490815.1:n.1850C>T
ENST00000638071.1:c.1437C>T
ENST00000640639.1:c.979C>T ENSP00000491823.1:p.Gln327Ter
ENST00000371394.6:c.*1545C>T ENSP00000485945.1:n.*1545C>T
ENST00000460843.5:c.1810C>T ENSP00000417980.1:p.Gln604Ter
ENST00000462484.5:c.1810C>T ENSP00000417328.1:p.Gln604Ter
ENST00000462942.3:c.667C>T ENSP00000436107.1:p.Gln223Ter
ENST00000465566.2:c.358C>T ENSP00000486261.1:p.Gln120Ter
ENST00000626603.1:n.1813G>A
NM_001145527.1:c.1810C>T NP_001138999.1:p.Gln604Ter
NM_024757.4:c.1810C>T NP_079033.4:p.Gln604Ter
XM_005266105.3:c.1801C>T XP_005266162.1:p.Gln601Ter
XM_005266110.1:c.1717C>T XP_005266167.1:p.Gln573Ter
XM_006717288.2:c.1792C>T XP_006717351.1:p.Gln598Ter
XM_011519021.1:c.1819C>T XP_011517323.1:p.Gln607Ter
XM_011519022.1:c.1816C>T XP_011517324.1:p.Gln606Ter
XM_011519023.1:c.1798C>T XP_011517325.1:p.Gln600Ter
XM_011519024.1:c.1741C>T XP_011517326.1:p.Gln581Ter
XM_011519025.1:c.1717C>T XP_011517327.1:p.Gln573Ter
XM_011519026.1:c.1675C>T XP_011517328.1:p.Gln559Ter
XM_011519027.1:c.1819C>T XP_011517329.1:p.Gln607Ter
XM_011519028.1:c.1819C>T XP_011517330.1:p.Gln607Ter
XM_011519029.1:c.241C>T XP_011517331.1:p.Gln81Ter
XM_011519033.1:c.1654C>T XP_011517335.1:p.Gln552Ter
NM_001354259.1:c.1717C>T NP_001341188.1:p.Gln573Ter
NM_001354263.1:c.1789C>T NP_001341192.1:p.Gln597Ter
XM_005266105.5:c.1801C>T XP_005266162.1:p.Gln601Ter
XM_011519021.3:c.1819C>T XP_011517323.1:p.Gln607Ter
XM_011519022.3:c.1816C>T XP_011517324.1:p.Gln606Ter
XM_011519023.3:c.1798C>T XP_011517325.1:p.Gln600Ter
XM_011519029.3:c.241C>T XP_011517331.1:p.Gln81Ter
XM_017015134.1:c.1795C>T XP_016870623.1:p.Gln599Ter
XM_017015136.2:c.1711C>T XP_016870625.1:p.Gln571Ter
XM_017015137.1:c.1696C>T XP_016870626.1:p.Gln566Ter
XM_017015138.1:c.1696C>T XP_016870627.1:p.Gln566Ter
XM_024447674.1:c.1639C>T XP_024303442.1:p.Gln547Ter
XM_024447675.1:c.1573C>T XP_024303443.1:p.Gln525Ter
XM_024447676.1:c.934C>T XP_024303444.1:p.Gln312Ter
XM_024447677.1:c.934C>T XP_024303445.1:p.Gln312Ter
XM_024447678.1:c.1717C>T XP_024303446.1:p.Gln573Ter
XM_024447679.1:c.1717C>T XP_024303447.1:p.Gln573Ter
XM_024447680.1:c.1552C>T XP_024303448.1:p.Gln518Ter
NM_024757.5:c.1810C>T MANE Select NP_079033.4:p.Gln604Ter
NM_001145527.2:c.1810C>T NP_001138999.1:p.Gln604Ter
NM_001354259.2:c.1717C>T NP_001341188.1:p.Gln573Ter
NM_001354263.2:c.1789C>T NP_001341192.1:p.Gln597Ter