Canonical Allele Identifier: CA5375110

Gene: EHMT1

Linked Data

• dbSNP Id: rs141891925
• ExAC: 9:140707535 A / C
• gnomAD v2: 9-140707535-A-C
• gnomAD v4: 9-137813083-A-C
• MyVariant Identifiers: chr9:g.140707535A>C (hg19) ; chr9:g.137813083A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813083A>C , CM000671.2:g.137813083A>C	GRCh38
NC_000009.11:g.140707535A>C , CM000671.1:g.140707535A>C	GRCh37
NC_000009.10:g.139827356A>C	NCBI36
NG_011776.1:g.199092A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2945A>C MANE Select	ENSP00000417980.1:p.Asn982Thr
ENST00000636027.1:c.2831A>C	ENSP00000489961.1:p.Asn944Thr
ENST00000637161.1:c.2852A>C	ENSP00000490328.1:p.Asn951Thr
ENST00000637261.1:c.2985A>C	ENSP00000490815.1:n.2985A>C
ENST00000637891.1:c.839A>C	ENSP00000490907.1:p.Asn280Thr
ENST00000460843.5:c.2945A>C	ENSP00000417980.1:p.Asn982Thr
ENST00000462942.3:c.1802A>C	ENSP00000436107.1:p.Asn601Thr
ENST00000486164.5:c.632A>C
ENST00000488242.2:n.471A>C
NM_024757.4:c.2945A>C	NP_079033.4:p.Asn982Thr
XM_005266105.3:c.2936A>C	XP_005266162.1:p.Asn979Thr
XM_005266110.1:c.2852A>C	XP_005266167.1:p.Asn951Thr
XM_006717288.2:c.2927A>C	XP_006717351.1:p.Asn976Thr
XM_011519021.1:c.2954A>C	XP_011517323.1:p.Asn985Thr
XM_011519022.1:c.2951A>C	XP_011517324.1:p.Asn984Thr
XM_011519023.1:c.2933A>C	XP_011517325.1:p.Asn978Thr
XM_011519024.1:c.2876A>C	XP_011517326.1:p.Asn959Thr
XM_011519025.1:c.2852A>C	XP_011517327.1:p.Asn951Thr
XM_011519026.1:c.2810A>C	XP_011517328.1:p.Asn937Thr
XM_011519029.1:c.1376A>C	XP_011517331.1:p.Asn459Thr
XM_011519030.1:c.728A>C	XP_011517332.1:p.Asn243Thr
XM_011519031.1:c.515A>C	XP_011517333.1:p.Asn172Thr
XM_011519032.1:c.515A>C	XP_011517334.1:p.Asn172Thr
XM_011519033.1:c.2789A>C	XP_011517335.1:p.Asn930Thr
NM_001354263.1:c.2924A>C	NP_001341192.1:p.Asn975Thr
XM_005266105.5:c.2936A>C	XP_005266162.1:p.Asn979Thr
XM_011519021.3:c.2954A>C	XP_011517323.1:p.Asn985Thr
XM_011519022.3:c.2951A>C	XP_011517324.1:p.Asn984Thr
XM_011519023.3:c.2933A>C	XP_011517325.1:p.Asn978Thr
XM_011519029.3:c.1376A>C	XP_011517331.1:p.Asn459Thr
XM_011519030.3:c.728A>C	XP_011517332.1:p.Asn243Thr
XM_017015134.1:c.2930A>C	XP_016870623.1:p.Asn977Thr
XM_017015136.2:c.2846A>C	XP_016870625.1:p.Asn949Thr
XM_017015137.1:c.2831A>C	XP_016870626.1:p.Asn944Thr
XM_017015138.1:c.2831A>C	XP_016870627.1:p.Asn944Thr
XM_024447674.1:c.2774A>C	XP_024303442.1:p.Asn925Thr
XM_024447675.1:c.2708A>C	XP_024303443.1:p.Asn903Thr
XM_024447676.1:c.2069A>C	XP_024303444.1:p.Asn690Thr
XM_024447677.1:c.2069A>C	XP_024303445.1:p.Asn690Thr
XM_024447680.1:c.2687A>C	XP_024303448.1:p.Asn896Thr
NM_024757.5:c.2945A>C MANE Select	NP_079033.4:p.Asn982Thr
NM_001354263.2:c.2924A>C	NP_001341192.1:p.Asn975Thr