Canonical Allele Identifier: CA375793475
Gene: EHMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426890
ClinVar RCV Id: RCV000489307
dbSNP Id: rs1085307843

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813088C>T , CM000671.2:g.137813088C>T GRCh38
NC_000009.11:g.140707540C>T , CM000671.1:g.140707540C>T GRCh37
NC_000009.10:g.139827361C>T NCBI36
NG_011776.1:g.199097C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000460843.6:c.2950C>T MANE Select ENSP00000417980.1:p.Gln984Ter
ENST00000636027.1:c.2836C>T ENSP00000489961.1:p.Gln946Ter
ENST00000637161.1:c.2857C>T ENSP00000490328.1:p.Gln953Ter
ENST00000637261.1:c.2990C>T ENSP00000490815.1:n.2990C>T
ENST00000637891.1:c.844C>T ENSP00000490907.1:p.Gln282Ter
ENST00000460843.5:c.2950C>T ENSP00000417980.1:p.Gln984Ter
ENST00000462942.3:c.1807C>T ENSP00000436107.1:p.Gln603Ter
ENST00000486164.5:c.637C>T
ENST00000488242.2:n.476C>T
NM_024757.4:c.2950C>T NP_079033.4:p.Gln984Ter
XM_005266105.3:c.2941C>T XP_005266162.1:p.Gln981Ter
XM_005266110.1:c.2857C>T XP_005266167.1:p.Gln953Ter
XM_006717288.2:c.2932C>T XP_006717351.1:p.Gln978Ter
XM_011519021.1:c.2959C>T XP_011517323.1:p.Gln987Ter
XM_011519022.1:c.2956C>T XP_011517324.1:p.Gln986Ter
XM_011519023.1:c.2938C>T XP_011517325.1:p.Gln980Ter
XM_011519024.1:c.2881C>T XP_011517326.1:p.Gln961Ter
XM_011519025.1:c.2857C>T XP_011517327.1:p.Gln953Ter
XM_011519026.1:c.2815C>T XP_011517328.1:p.Gln939Ter
XM_011519029.1:c.1381C>T XP_011517331.1:p.Gln461Ter
XM_011519030.1:c.733C>T XP_011517332.1:p.Gln245Ter
XM_011519031.1:c.520C>T XP_011517333.1:p.Gln174Ter
XM_011519032.1:c.520C>T XP_011517334.1:p.Gln174Ter
XM_011519033.1:c.2794C>T XP_011517335.1:p.Gln932Ter
NM_001354263.1:c.2929C>T NP_001341192.1:p.Gln977Ter
XM_005266105.5:c.2941C>T XP_005266162.1:p.Gln981Ter
XM_011519021.3:c.2959C>T XP_011517323.1:p.Gln987Ter
XM_011519022.3:c.2956C>T XP_011517324.1:p.Gln986Ter
XM_011519023.3:c.2938C>T XP_011517325.1:p.Gln980Ter
XM_011519029.3:c.1381C>T XP_011517331.1:p.Gln461Ter
XM_011519030.3:c.733C>T XP_011517332.1:p.Gln245Ter
XM_017015134.1:c.2935C>T XP_016870623.1:p.Gln979Ter
XM_017015136.2:c.2851C>T XP_016870625.1:p.Gln951Ter
XM_017015137.1:c.2836C>T XP_016870626.1:p.Gln946Ter
XM_017015138.1:c.2836C>T XP_016870627.1:p.Gln946Ter
XM_024447674.1:c.2779C>T XP_024303442.1:p.Gln927Ter
XM_024447675.1:c.2713C>T XP_024303443.1:p.Gln905Ter
XM_024447676.1:c.2074C>T XP_024303444.1:p.Gln692Ter
XM_024447677.1:c.2074C>T XP_024303445.1:p.Gln692Ter
XM_024447680.1:c.2692C>T XP_024303448.1:p.Gln898Ter
NM_024757.5:c.2950C>T MANE Select NP_079033.4:p.Gln984Ter
NM_001354263.2:c.2929C>T NP_001341192.1:p.Gln977Ter