Canonical Allele Identifier: CA126749

Gene: EDN3

Linked Data

• ClinVar Variation Id: 16647
• ClinVar RCV Id: RCV000214032 ; RCV000907433 ; RCV000990324 ; RCV000018127
• dbSNP Id: rs11570351
• ExAC: 20:57899467 G / A
• gnomAD v2: 20-57899467-G-A
• gnomAD v3: 20-59324412-G-A
• gnomAD v4: 20-59324412-G-A
• MyVariant Identifiers: chr20:g.57899467G>A (hg19) ; chr20:g.59324412G>A (hg38)
• PubMed: PMID:9359047 ; PMID:9587491

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59324412G>A , CM000682.2:g.59324412G>A	GRCh38
NC_000020.10:g.57899467G>A , CM000682.1:g.57899467G>A	GRCh37
NC_000020.9:g.57332862G>A	NCBI36
NG_008050.1:g.28969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337938.7:c.670G>A MANE Select	ENSP00000337128.2:p.Ala224Thr
ENST00000644821.1:c.*131G>A	ENSP00000493472.1:n.*131G>A
ENST00000671744.1:n.1311G>A
ENST00000672969.1:c.572G>A
ENST00000311585.11:c.*45G>A	ENSP00000311854.7:n.*45G>A
ENST00000337938.6:c.670G>A	ENSP00000337128.2:p.Ala224Thr
ENST00000371025.7:c.*45G>A	ENSP00000360064.3:n.*45G>A
ENST00000371028.6:c.670G>A	ENSP00000360067.2:p.Ala224Thr
ENST00000395654.3:c.628G>A	ENSP00000379015.3:p.Ala210Thr
NM_001302455.1:c.*77G>A	NP_001289384.1:n.*77G>A
NM_001302456.1:c.*45G>A	NP_001289385.1:n.*45G>A
NM_207032.2:c.*45G>A	NP_996915.1:n.*45G>A
NM_207033.2:c.628G>A	NP_996916.1:p.Ala210Thr
NM_207034.2:c.670G>A	NP_996917.1:p.Ala224Thr
XM_005260312.3:c.709G>A	XP_005260369.1:p.Ala237Thr
XM_005260313.3:c.*45G>A	XP_005260370.1:n.*45G>A
XM_006723734.2:c.*108G>A	XP_006723797.1:n.*108G>A
XM_011528655.1:c.688G>A	XP_011526957.1:p.Ala230Thr
XR_936513.1:n.1152G>A
XM_005260312.4:c.709G>A	XP_005260369.1:p.Ala237Thr
XM_005260313.5:c.*45G>A	XP_005260370.1:n.*45G>A
XM_006723734.3:c.*108G>A	XP_006723797.1:n.*108G>A
XM_011528655.2:c.688G>A	XP_011526957.1:p.Ala230Thr
XM_024451847.1:c.*113G>A	XP_024307615.1:n.*113G>A
XM_024451848.1:c.*117G>A	XP_024307616.1:n.*117G>A
XR_002958461.1:n.1147G>A
XR_002958462.1:n.1175G>A
XR_936513.2:n.1160G>A
NM_207034.3:c.670G>A MANE Select	NP_996917.1:p.Ala224Thr
NM_001302455.2:c.*77G>A	NP_001289384.1:n.*77G>A
NM_001302456.2:c.*45G>A	NP_001289385.1:n.*45G>A
NM_207032.3:c.*45G>A	NP_996915.1:n.*45G>A
NM_207033.3:c.628G>A	NP_996916.1:p.Ala210Thr