Canonical Allele Identifier: CA375793589

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 863114
• ClinVar RCV Id: RCV001070005
• dbSNP Id: rs1954625628
• gnomAD v4: 9-137813113-G-A
• MyVariant Identifiers: chr9:g.140707565G>A (hg19) ; chr9:g.137813113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813113G>A , CM000671.2:g.137813113G>A	GRCh38
NC_000009.11:g.140707565G>A , CM000671.1:g.140707565G>A	GRCh37
NC_000009.10:g.139827386G>A	NCBI36
NG_011776.1:g.199122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2975G>A MANE Select	ENSP00000417980.1:p.Ser992Asn
ENST00000636027.1:c.2861G>A	ENSP00000489961.1:p.Ser954Asn
ENST00000637161.1:c.2882G>A	ENSP00000490328.1:p.Ser961Asn
ENST00000637261.1:c.3015G>A	ENSP00000490815.1:n.3015G>A
ENST00000637891.1:c.869G>A	ENSP00000490907.1:p.Ser290Asn
ENST00000460843.5:c.2975G>A	ENSP00000417980.1:p.Ser992Asn
ENST00000462942.3:c.1832G>A	ENSP00000436107.1:p.Ser611Asn
ENST00000486164.5:c.662G>A
ENST00000488242.2:n.501G>A
NM_024757.4:c.2975G>A	NP_079033.4:p.Ser992Asn
XM_005266105.3:c.2966G>A	XP_005266162.1:p.Ser989Asn
XM_005266110.1:c.2882G>A	XP_005266167.1:p.Ser961Asn
XM_006717288.2:c.2957G>A	XP_006717351.1:p.Ser986Asn
XM_011519021.1:c.2984G>A	XP_011517323.1:p.Ser995Asn
XM_011519022.1:c.2981G>A	XP_011517324.1:p.Ser994Asn
XM_011519023.1:c.2963G>A	XP_011517325.1:p.Ser988Asn
XM_011519024.1:c.2906G>A	XP_011517326.1:p.Ser969Asn
XM_011519025.1:c.2882G>A	XP_011517327.1:p.Ser961Asn
XM_011519026.1:c.2840G>A	XP_011517328.1:p.Ser947Asn
XM_011519029.1:c.1406G>A	XP_011517331.1:p.Ser469Asn
XM_011519030.1:c.758G>A	XP_011517332.1:p.Ser253Asn
XM_011519031.1:c.545G>A	XP_011517333.1:p.Ser182Asn
XM_011519032.1:c.545G>A	XP_011517334.1:p.Ser182Asn
XM_011519033.1:c.2819G>A	XP_011517335.1:p.Ser940Asn
NM_001354263.1:c.2954G>A	NP_001341192.1:p.Ser985Asn
XM_005266105.5:c.2966G>A	XP_005266162.1:p.Ser989Asn
XM_011519021.3:c.2984G>A	XP_011517323.1:p.Ser995Asn
XM_011519022.3:c.2981G>A	XP_011517324.1:p.Ser994Asn
XM_011519023.3:c.2963G>A	XP_011517325.1:p.Ser988Asn
XM_011519029.3:c.1406G>A	XP_011517331.1:p.Ser469Asn
XM_011519030.3:c.758G>A	XP_011517332.1:p.Ser253Asn
XM_017015134.1:c.2960G>A	XP_016870623.1:p.Ser987Asn
XM_017015136.2:c.2876G>A	XP_016870625.1:p.Ser959Asn
XM_017015137.1:c.2861G>A	XP_016870626.1:p.Ser954Asn
XM_017015138.1:c.2861G>A	XP_016870627.1:p.Ser954Asn
XM_024447674.1:c.2804G>A	XP_024303442.1:p.Ser935Asn
XM_024447675.1:c.2738G>A	XP_024303443.1:p.Ser913Asn
XM_024447676.1:c.2099G>A	XP_024303444.1:p.Ser700Asn
XM_024447677.1:c.2099G>A	XP_024303445.1:p.Ser700Asn
XM_024447680.1:c.2717G>A	XP_024303448.1:p.Ser906Asn
NM_024757.5:c.2975G>A MANE Select	NP_079033.4:p.Ser992Asn
NM_001354263.2:c.2954G>A	NP_001341192.1:p.Ser985Asn