Canonical Allele Identifier: CA375793469

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813086-C-T
• MyVariant Identifiers: chr9:g.140707538C>T (hg19) ; chr9:g.137813086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813086C>T , CM000671.2:g.137813086C>T	GRCh38
NC_000009.11:g.140707538C>T , CM000671.1:g.140707538C>T	GRCh37
NC_000009.10:g.139827359C>T	NCBI36
NG_011776.1:g.199095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2948C>T MANE Select	ENSP00000417980.1:p.Ser983Phe
ENST00000636027.1:c.2834C>T	ENSP00000489961.1:p.Ser945Phe
ENST00000637161.1:c.2855C>T	ENSP00000490328.1:p.Ser952Phe
ENST00000637261.1:c.2988C>T	ENSP00000490815.1:n.2988C>T
ENST00000637891.1:c.842C>T	ENSP00000490907.1:p.Ser281Phe
ENST00000460843.5:c.2948C>T	ENSP00000417980.1:p.Ser983Phe
ENST00000462942.3:c.1805C>T	ENSP00000436107.1:p.Ser602Phe
ENST00000486164.5:c.635C>T
ENST00000488242.2:n.474C>T
NM_024757.4:c.2948C>T	NP_079033.4:p.Ser983Phe
XM_005266105.3:c.2939C>T	XP_005266162.1:p.Ser980Phe
XM_005266110.1:c.2855C>T	XP_005266167.1:p.Ser952Phe
XM_006717288.2:c.2930C>T	XP_006717351.1:p.Ser977Phe
XM_011519021.1:c.2957C>T	XP_011517323.1:p.Ser986Phe
XM_011519022.1:c.2954C>T	XP_011517324.1:p.Ser985Phe
XM_011519023.1:c.2936C>T	XP_011517325.1:p.Ser979Phe
XM_011519024.1:c.2879C>T	XP_011517326.1:p.Ser960Phe
XM_011519025.1:c.2855C>T	XP_011517327.1:p.Ser952Phe
XM_011519026.1:c.2813C>T	XP_011517328.1:p.Ser938Phe
XM_011519029.1:c.1379C>T	XP_011517331.1:p.Ser460Phe
XM_011519030.1:c.731C>T	XP_011517332.1:p.Ser244Phe
XM_011519031.1:c.518C>T	XP_011517333.1:p.Ser173Phe
XM_011519032.1:c.518C>T	XP_011517334.1:p.Ser173Phe
XM_011519033.1:c.2792C>T	XP_011517335.1:p.Ser931Phe
NM_001354263.1:c.2927C>T	NP_001341192.1:p.Ser976Phe
XM_005266105.5:c.2939C>T	XP_005266162.1:p.Ser980Phe
XM_011519021.3:c.2957C>T	XP_011517323.1:p.Ser986Phe
XM_011519022.3:c.2954C>T	XP_011517324.1:p.Ser985Phe
XM_011519023.3:c.2936C>T	XP_011517325.1:p.Ser979Phe
XM_011519029.3:c.1379C>T	XP_011517331.1:p.Ser460Phe
XM_011519030.3:c.731C>T	XP_011517332.1:p.Ser244Phe
XM_017015134.1:c.2933C>T	XP_016870623.1:p.Ser978Phe
XM_017015136.2:c.2849C>T	XP_016870625.1:p.Ser950Phe
XM_017015137.1:c.2834C>T	XP_016870626.1:p.Ser945Phe
XM_017015138.1:c.2834C>T	XP_016870627.1:p.Ser945Phe
XM_024447674.1:c.2777C>T	XP_024303442.1:p.Ser926Phe
XM_024447675.1:c.2711C>T	XP_024303443.1:p.Ser904Phe
XM_024447676.1:c.2072C>T	XP_024303444.1:p.Ser691Phe
XM_024447677.1:c.2072C>T	XP_024303445.1:p.Ser691Phe
XM_024447680.1:c.2690C>T	XP_024303448.1:p.Ser897Phe
NM_024757.5:c.2948C>T MANE Select	NP_079033.4:p.Ser983Phe
NM_001354263.2:c.2927C>T	NP_001341192.1:p.Ser976Phe