Canonical Allele Identifier: CA10644284

Gene: EDN3

Linked Data

• ClinVar Variation Id: 339144
• ClinVar RCV Id: RCV000290646
• dbSNP Id: rs886056882
• MyVariant Identifiers: chr20:g.57900085A>G (hg19) ; chr20:g.59325030A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59325030A>G , CM000682.2:g.59325030A>G	GRCh38
NC_000020.10:g.57900085A>G , CM000682.1:g.57900085A>G	GRCh37
NC_000020.9:g.57333480A>G	NCBI36
NG_008050.1:g.29587A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337938.7:c.*571A>G MANE Select	ENSP00000337128.2:n.*571A>G
ENST00000644821.1:c.*749A>G	ENSP00000493472.1:n.*749A>G
ENST00000671744.1:n.1929A>G
ENST00000311585.11:c.*663A>G	ENSP00000311854.7:n.*663A>G
ENST00000337938.6:c.*571A>G	ENSP00000337128.2:n.*571A>G
ENST00000371028.6:c.*350A>G	ENSP00000360067.2:n.*350A>G
ENST00000395654.3:c.*571A>G	ENSP00000379015.3:n.*571A>G
NM_001302455.1:c.*695A>G	NP_001289384.1:n.*695A>G
NM_001302456.1:c.*663A>G	NP_001289385.1:n.*663A>G
NM_207032.2:c.*663A>G	NP_996915.1:n.*663A>G
NM_207033.2:c.*571A>G	NP_996916.1:n.*571A>G
NM_207034.2:c.*571A>G	NP_996917.1:n.*571A>G
XM_005260312.3:c.*571A>G	XP_005260369.1:n.*571A>G
XM_011528655.1:c.*571A>G	XP_011526957.1:n.*571A>G
XM_005260312.4:c.*571A>G	XP_005260369.1:n.*571A>G
XM_005260313.5:c.*663A>G	XP_005260370.1:n.*663A>G
XM_006723734.3:c.*726A>G	XP_006723797.1:n.*726A>G
XM_011528655.2:c.*571A>G	XP_011526957.1:n.*571A>G
NM_207034.3:c.*571A>G MANE Select	NP_996917.1:n.*571A>G
NM_001302455.2:c.*695A>G	NP_001289384.1:n.*695A>G
NM_001302456.2:c.*663A>G	NP_001289385.1:n.*663A>G
NM_207032.3:c.*663A>G	NP_996915.1:n.*663A>G
NM_207033.3:c.*571A>G	NP_996916.1:n.*571A>G