Canonical Allele Identifier: CA409706912

Gene: EDN3

Linked Data

• ClinVar Variation Id: 2277203
• ClinVar RCV Id: RCV002813546
• gnomAD v4: 20-59301598-C-G
• MyVariant Identifiers: chr20:g.57876653C>G (hg19) ; chr20:g.59301598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59301598C>G , CM000682.2:g.59301598C>G	GRCh38
NC_000020.10:g.57876653C>G , CM000682.1:g.57876653C>G	GRCh37
NC_000020.9:g.57310048C>G	NCBI36
NG_008050.1:g.6155C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337938.7:c.241C>G MANE Select	ENSP00000337128.2:p.Gln81Glu
ENST00000644821.1:c.241C>G	ENSP00000493472.1:p.Gln81Glu
ENST00000671744.1:n.882C>G
ENST00000672969.1:c.78C>G
ENST00000311585.11:c.241C>G	ENSP00000311854.7:p.Gln81Glu
ENST00000337938.6:c.241C>G	ENSP00000337128.2:p.Gln81Glu
ENST00000371025.7:c.241C>G	ENSP00000360064.3:p.Gln81Glu
ENST00000371028.6:c.241C>G	ENSP00000360067.2:p.Gln81Glu
ENST00000395654.3:c.241C>G	ENSP00000379015.3:p.Gln81Glu
NM_001302455.1:c.241C>G	NP_001289384.1:p.Gln81Glu
NM_001302456.1:c.241C>G	NP_001289385.1:p.Gln81Glu
NM_207032.2:c.241C>G	NP_996915.1:p.Gln81Glu
NM_207033.2:c.241C>G	NP_996916.1:p.Gln81Glu
NM_207034.2:c.241C>G	NP_996917.1:p.Gln81Glu
XM_005260312.3:c.241C>G	XP_005260369.1:p.Gln81Glu
XM_005260313.3:c.241C>G	XP_005260370.1:p.Gln81Glu
XM_006723734.2:c.241C>G	XP_006723797.1:p.Gln81Glu
XM_011528655.1:c.241C>G	XP_011526957.1:p.Gln81Glu
XR_936513.1:n.630C>G
XM_005260312.4:c.241C>G	XP_005260369.1:p.Gln81Glu
XM_005260313.5:c.241C>G	XP_005260370.1:p.Gln81Glu
XM_006723734.3:c.241C>G	XP_006723797.1:p.Gln81Glu
XM_011528655.2:c.241C>G	XP_011526957.1:p.Gln81Glu
XM_024451847.1:c.241C>G	XP_024307615.1:p.Gln81Glu
XM_024451848.1:c.241C>G	XP_024307616.1:p.Gln81Glu
XR_002958461.1:n.639C>G
XR_002958462.1:n.639C>G
XR_936513.2:n.638C>G
NM_207034.3:c.241C>G MANE Select	NP_996917.1:p.Gln81Glu
NM_001302455.2:c.241C>G	NP_001289384.1:p.Gln81Glu
NM_001302456.2:c.241C>G	NP_001289385.1:p.Gln81Glu
NM_207032.3:c.241C>G	NP_996915.1:p.Gln81Glu
NM_207033.3:c.241C>G	NP_996916.1:p.Gln81Glu