Canonical Allele Identifier: CA16618820
Gene: EHMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424487
ClinVar RCV Id: RCV000479136
dbSNP Id: rs1064796996

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813477C>T , CM000671.2:g.137813477C>T GRCh38
NC_000009.11:g.140707929C>T , CM000671.1:g.140707929C>T GRCh37
NC_000009.10:g.139827750C>T NCBI36
NG_011776.1:g.199486C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000460843.6:c.3127C>T MANE Select ENSP00000417980.1:p.Gln1043Ter
ENST00000637161.1:c.3034C>T ENSP00000490328.1:p.Gln1012Ter
ENST00000637261.1:c.3167C>T ENSP00000490815.1:n.3167C>T
ENST00000637891.1:c.1021C>T ENSP00000490907.1:p.Gln341Ter
ENST00000460843.5:c.3127C>T ENSP00000417980.1:p.Gln1043Ter
ENST00000462942.3:c.1984C>T ENSP00000436107.1:p.Gln662Ter
ENST00000488242.2:n.653C>T
NM_024757.4:c.3127C>T NP_079033.4:p.Gln1043Ter
XM_005266105.3:c.3118C>T XP_005266162.1:p.Gln1040Ter
XM_005266110.1:c.3034C>T XP_005266167.1:p.Gln1012Ter
XM_006717288.2:c.3109C>T XP_006717351.1:p.Gln1037Ter
XM_011519021.1:c.3136C>T XP_011517323.1:p.Gln1046Ter
XM_011519022.1:c.3133C>T XP_011517324.1:p.Gln1045Ter
XM_011519023.1:c.3115C>T XP_011517325.1:p.Gln1039Ter
XM_011519024.1:c.3058C>T XP_011517326.1:p.Gln1020Ter
XM_011519025.1:c.3034C>T XP_011517327.1:p.Gln1012Ter
XM_011519026.1:c.2992C>T XP_011517328.1:p.Gln998Ter
XM_011519029.1:c.1558C>T XP_011517331.1:p.Gln520Ter
XM_011519030.1:c.910C>T XP_011517332.1:p.Gln304Ter
XM_011519031.1:c.697C>T XP_011517333.1:p.Gln233Ter
XM_011519032.1:c.697C>T XP_011517334.1:p.Gln233Ter
XM_011519033.1:c.2971C>T XP_011517335.1:p.Gln991Ter
NM_001354263.1:c.3106C>T NP_001341192.1:p.Gln1036Ter
XM_005266105.5:c.3118C>T XP_005266162.1:p.Gln1040Ter
XM_011519021.3:c.3136C>T XP_011517323.1:p.Gln1046Ter
XM_011519022.3:c.3133C>T XP_011517324.1:p.Gln1045Ter
XM_011519023.3:c.3115C>T XP_011517325.1:p.Gln1039Ter
XM_011519029.3:c.1558C>T XP_011517331.1:p.Gln520Ter
XM_011519030.3:c.910C>T XP_011517332.1:p.Gln304Ter
XM_017015134.1:c.3112C>T XP_016870623.1:p.Gln1038Ter
XM_017015136.2:c.3028C>T XP_016870625.1:p.Gln1010Ter
XM_017015137.1:c.3013C>T XP_016870626.1:p.Gln1005Ter
XM_017015138.1:c.3013C>T XP_016870627.1:p.Gln1005Ter
XM_024447674.1:c.2956C>T XP_024303442.1:p.Gln986Ter
XM_024447675.1:c.2890C>T XP_024303443.1:p.Gln964Ter
XM_024447676.1:c.2251C>T XP_024303444.1:p.Gln751Ter
XM_024447677.1:c.2251C>T XP_024303445.1:p.Gln751Ter
XM_024447680.1:c.2869C>T XP_024303448.1:p.Gln957Ter
NM_024757.5:c.3127C>T MANE Select NP_079033.4:p.Gln1043Ter
NM_001354263.2:c.3106C>T NP_001341192.1:p.Gln1036Ter