Canonical Allele Identifier: CA375793705

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2791260
• ClinVar RCV Id: RCV003609501
• dbSNP Id: rs33999936
• gnomAD v4: 9-137813154-G-T
• MyVariant Identifiers: chr9:g.140707606G>T (hg19) ; chr9:g.137813154G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813154G>T , CM000671.2:g.137813154G>T	GRCh38
NC_000009.11:g.140707606G>T , CM000671.1:g.140707606G>T	GRCh37
NC_000009.10:g.139827427G>T	NCBI36
NG_011776.1:g.199163G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3016G>T MANE Select	ENSP00000417980.1:p.Val1006Leu
ENST00000636027.1:c.2902G>T	ENSP00000489961.1:p.Val968Leu
ENST00000637161.1:c.2923G>T	ENSP00000490328.1:p.Val975Leu
ENST00000637261.1:c.3056G>T	ENSP00000490815.1:n.3056G>T
ENST00000637891.1:c.910G>T	ENSP00000490907.1:p.Val304Leu
ENST00000460843.5:c.3016G>T	ENSP00000417980.1:p.Val1006Leu
ENST00000462942.3:c.1873G>T	ENSP00000436107.1:p.Val625Leu
ENST00000486164.5:c.703G>T
ENST00000488242.2:n.542G>T
NM_024757.4:c.3016G>T	NP_079033.4:p.Val1006Leu
XM_005266105.3:c.3007G>T	XP_005266162.1:p.Val1003Leu
XM_005266110.1:c.2923G>T	XP_005266167.1:p.Val975Leu
XM_006717288.2:c.2998G>T	XP_006717351.1:p.Val1000Leu
XM_011519021.1:c.3025G>T	XP_011517323.1:p.Val1009Leu
XM_011519022.1:c.3022G>T	XP_011517324.1:p.Val1008Leu
XM_011519023.1:c.3004G>T	XP_011517325.1:p.Val1002Leu
XM_011519024.1:c.2947G>T	XP_011517326.1:p.Val983Leu
XM_011519025.1:c.2923G>T	XP_011517327.1:p.Val975Leu
XM_011519026.1:c.2881G>T	XP_011517328.1:p.Val961Leu
XM_011519029.1:c.1447G>T	XP_011517331.1:p.Val483Leu
XM_011519030.1:c.799G>T	XP_011517332.1:p.Val267Leu
XM_011519031.1:c.586G>T	XP_011517333.1:p.Val196Leu
XM_011519032.1:c.586G>T	XP_011517334.1:p.Val196Leu
XM_011519033.1:c.2860G>T	XP_011517335.1:p.Val954Leu
NM_001354263.1:c.2995G>T	NP_001341192.1:p.Val999Leu
XM_005266105.5:c.3007G>T	XP_005266162.1:p.Val1003Leu
XM_011519021.3:c.3025G>T	XP_011517323.1:p.Val1009Leu
XM_011519022.3:c.3022G>T	XP_011517324.1:p.Val1008Leu
XM_011519023.3:c.3004G>T	XP_011517325.1:p.Val1002Leu
XM_011519029.3:c.1447G>T	XP_011517331.1:p.Val483Leu
XM_011519030.3:c.799G>T	XP_011517332.1:p.Val267Leu
XM_017015134.1:c.3001G>T	XP_016870623.1:p.Val1001Leu
XM_017015136.2:c.2917G>T	XP_016870625.1:p.Val973Leu
XM_017015137.1:c.2902G>T	XP_016870626.1:p.Val968Leu
XM_017015138.1:c.2902G>T	XP_016870627.1:p.Val968Leu
XM_024447674.1:c.2845G>T	XP_024303442.1:p.Val949Leu
XM_024447675.1:c.2779G>T	XP_024303443.1:p.Val927Leu
XM_024447676.1:c.2140G>T	XP_024303444.1:p.Val714Leu
XM_024447677.1:c.2140G>T	XP_024303445.1:p.Val714Leu
XM_024447680.1:c.2758G>T	XP_024303448.1:p.Val920Leu
NM_024757.5:c.3016G>T MANE Select	NP_079033.4:p.Val1006Leu
NM_001354263.2:c.2995G>T	NP_001341192.1:p.Val999Leu