Canonical Allele Identifier: CA375794097

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2764258
• ClinVar RCV Id: RCV003503328
• MyVariant Identifiers: chr9:g.140707903G>T (hg19) ; chr9:g.137813451G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813451G>T , CM000671.2:g.137813451G>T	GRCh38
NC_000009.11:g.140707903G>T , CM000671.1:g.140707903G>T	GRCh37
NC_000009.10:g.139827724G>T	NCBI36
NG_011776.1:g.199460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3101G>T MANE Select	ENSP00000417980.1:p.Cys1034Phe
ENST00000637161.1:c.3008G>T	ENSP00000490328.1:p.Cys1003Phe
ENST00000637261.1:c.3141G>T	ENSP00000490815.1:n.3141G>T
ENST00000637891.1:c.995G>T	ENSP00000490907.1:p.Cys332Phe
ENST00000460843.5:c.3101G>T	ENSP00000417980.1:p.Cys1034Phe
ENST00000462942.3:c.1958G>T	ENSP00000436107.1:p.Cys653Phe
ENST00000488242.2:n.627G>T
NM_024757.4:c.3101G>T	NP_079033.4:p.Cys1034Phe
XM_005266105.3:c.3092G>T	XP_005266162.1:p.Cys1031Phe
XM_005266110.1:c.3008G>T	XP_005266167.1:p.Cys1003Phe
XM_006717288.2:c.3083G>T	XP_006717351.1:p.Cys1028Phe
XM_011519021.1:c.3110G>T	XP_011517323.1:p.Cys1037Phe
XM_011519022.1:c.3107G>T	XP_011517324.1:p.Cys1036Phe
XM_011519023.1:c.3089G>T	XP_011517325.1:p.Cys1030Phe
XM_011519024.1:c.3032G>T	XP_011517326.1:p.Cys1011Phe
XM_011519025.1:c.3008G>T	XP_011517327.1:p.Cys1003Phe
XM_011519026.1:c.2966G>T	XP_011517328.1:p.Cys989Phe
XM_011519029.1:c.1532G>T	XP_011517331.1:p.Cys511Phe
XM_011519030.1:c.884G>T	XP_011517332.1:p.Cys295Phe
XM_011519031.1:c.671G>T	XP_011517333.1:p.Cys224Phe
XM_011519032.1:c.671G>T	XP_011517334.1:p.Cys224Phe
XM_011519033.1:c.2945G>T	XP_011517335.1:p.Cys982Phe
NM_001354263.1:c.3080G>T	NP_001341192.1:p.Cys1027Phe
XM_005266105.5:c.3092G>T	XP_005266162.1:p.Cys1031Phe
XM_011519021.3:c.3110G>T	XP_011517323.1:p.Cys1037Phe
XM_011519022.3:c.3107G>T	XP_011517324.1:p.Cys1036Phe
XM_011519023.3:c.3089G>T	XP_011517325.1:p.Cys1030Phe
XM_011519029.3:c.1532G>T	XP_011517331.1:p.Cys511Phe
XM_011519030.3:c.884G>T	XP_011517332.1:p.Cys295Phe
XM_017015134.1:c.3086G>T	XP_016870623.1:p.Cys1029Phe
XM_017015136.2:c.3002G>T	XP_016870625.1:p.Cys1001Phe
XM_017015137.1:c.2987G>T	XP_016870626.1:p.Cys996Phe
XM_017015138.1:c.2987G>T	XP_016870627.1:p.Cys996Phe
XM_024447674.1:c.2930G>T	XP_024303442.1:p.Cys977Phe
XM_024447675.1:c.2864G>T	XP_024303443.1:p.Cys955Phe
XM_024447676.1:c.2225G>T	XP_024303444.1:p.Cys742Phe
XM_024447677.1:c.2225G>T	XP_024303445.1:p.Cys742Phe
XM_024447680.1:c.2843G>T	XP_024303448.1:p.Cys948Phe
NM_024757.5:c.3101G>T MANE Select	NP_079033.4:p.Cys1034Phe
NM_001354263.2:c.3080G>T	NP_001341192.1:p.Cys1027Phe