Canonical Allele Identifier: CA375793209

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813019-C-T
• COSMIC: COSM6454429 ; COSM6454430
• MyVariant Identifiers: chr9:g.140707471C>T (hg19) ; chr9:g.137813019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813019C>T , CM000671.2:g.137813019C>T	GRCh38
NC_000009.11:g.140707471C>T , CM000671.1:g.140707471C>T	GRCh37
NC_000009.10:g.139827292C>T	NCBI36
NG_011776.1:g.199028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2881C>T MANE Select	ENSP00000417980.1:p.Arg961Trp
ENST00000636027.1:c.2767C>T	ENSP00000489961.1:p.Arg923Trp
ENST00000637161.1:c.2788C>T	ENSP00000490328.1:p.Arg930Trp
ENST00000637261.1:c.2921C>T	ENSP00000490815.1:n.2921C>T
ENST00000637891.1:c.775C>T	ENSP00000490907.1:p.Arg259Trp
ENST00000460843.5:c.2881C>T	ENSP00000417980.1:p.Arg961Trp
ENST00000462942.3:c.1738C>T	ENSP00000436107.1:p.Arg580Trp
ENST00000486164.5:c.568C>T
ENST00000488242.2:n.407C>T
NM_024757.4:c.2881C>T	NP_079033.4:p.Arg961Trp
XM_005266105.3:c.2872C>T	XP_005266162.1:p.Arg958Trp
XM_005266110.1:c.2788C>T	XP_005266167.1:p.Arg930Trp
XM_006717288.2:c.2863C>T	XP_006717351.1:p.Arg955Trp
XM_011519021.1:c.2890C>T	XP_011517323.1:p.Arg964Trp
XM_011519022.1:c.2887C>T	XP_011517324.1:p.Arg963Trp
XM_011519023.1:c.2869C>T	XP_011517325.1:p.Arg957Trp
XM_011519024.1:c.2812C>T	XP_011517326.1:p.Arg938Trp
XM_011519025.1:c.2788C>T	XP_011517327.1:p.Arg930Trp
XM_011519026.1:c.2746C>T	XP_011517328.1:p.Arg916Trp
XM_011519029.1:c.1312C>T	XP_011517331.1:p.Arg438Trp
XM_011519030.1:c.664C>T	XP_011517332.1:p.Arg222Trp
XM_011519031.1:c.451C>T	XP_011517333.1:p.Arg151Trp
XM_011519032.1:c.451C>T	XP_011517334.1:p.Arg151Trp
XM_011519033.1:c.2725C>T	XP_011517335.1:p.Arg909Trp
NM_001354263.1:c.2860C>T	NP_001341192.1:p.Arg954Trp
XM_005266105.5:c.2872C>T	XP_005266162.1:p.Arg958Trp
XM_011519021.3:c.2890C>T	XP_011517323.1:p.Arg964Trp
XM_011519022.3:c.2887C>T	XP_011517324.1:p.Arg963Trp
XM_011519023.3:c.2869C>T	XP_011517325.1:p.Arg957Trp
XM_011519029.3:c.1312C>T	XP_011517331.1:p.Arg438Trp
XM_011519030.3:c.664C>T	XP_011517332.1:p.Arg222Trp
XM_017015134.1:c.2866C>T	XP_016870623.1:p.Arg956Trp
XM_017015136.2:c.2782C>T	XP_016870625.1:p.Arg928Trp
XM_017015137.1:c.2767C>T	XP_016870626.1:p.Arg923Trp
XM_017015138.1:c.2767C>T	XP_016870627.1:p.Arg923Trp
XM_024447674.1:c.2710C>T	XP_024303442.1:p.Arg904Trp
XM_024447675.1:c.2644C>T	XP_024303443.1:p.Arg882Trp
XM_024447676.1:c.2005C>T	XP_024303444.1:p.Arg669Trp
XM_024447677.1:c.2005C>T	XP_024303445.1:p.Arg669Trp
XM_024447680.1:c.2623C>T	XP_024303448.1:p.Arg875Trp
NM_024757.5:c.2881C>T MANE Select	NP_079033.4:p.Arg961Trp
NM_001354263.2:c.2860C>T	NP_001341192.1:p.Arg954Trp