Canonical Allele Identifier: CA511341894

Gene: EDN3

Linked Data

• ClinVar Variation Id: 666686
• ClinVar RCV Id: RCV000825155
• dbSNP Id: rs1272021123
• gnomAD v4: 20-59301699-C-T
• MyVariant Identifiers: chr20:g.57876754C>T (hg19) ; chr20:g.59301699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59301699C>T , CM000682.2:g.59301699C>T	GRCh38
NC_000020.10:g.57876754C>T , CM000682.1:g.57876754C>T	GRCh37
NC_000020.9:g.57310149C>T	NCBI36
NG_008050.1:g.6256C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337938.7:c.342C>T MANE Select	ENSP00000337128.2:p.Asp114=
ENST00000644821.1:c.342C>T	ENSP00000493472.1:p.Asp114=
ENST00000671744.1:n.983C>T
ENST00000672969.1:c.179C>T
ENST00000311585.11:c.342C>T	ENSP00000311854.7:p.Asp114=
ENST00000337938.6:c.342C>T	ENSP00000337128.2:p.Asp114=
ENST00000371025.7:c.342C>T	ENSP00000360064.3:p.Asp114=
ENST00000371028.6:c.342C>T	ENSP00000360067.2:p.Asp114=
ENST00000395654.3:c.342C>T	ENSP00000379015.3:p.Asp114=
NM_001302455.1:c.342C>T	NP_001289384.1:p.Asp114=
NM_001302456.1:c.342C>T	NP_001289385.1:p.Asp114=
NM_207032.2:c.342C>T	NP_996915.1:p.Asp114=
NM_207033.2:c.342C>T	NP_996916.1:p.Asp114=
NM_207034.2:c.342C>T	NP_996917.1:p.Asp114=
XM_005260312.3:c.342C>T	XP_005260369.1:p.Asp114=
XM_005260313.3:c.342C>T	XP_005260370.1:p.Asp114=
XM_006723734.2:c.342C>T	XP_006723797.1:p.Asp114=
XM_011528655.1:c.342C>T	XP_011526957.1:p.Asp114=
XR_936513.1:n.731C>T
XM_005260312.4:c.342C>T	XP_005260369.1:p.Asp114=
XM_005260313.5:c.342C>T	XP_005260370.1:p.Asp114=
XM_006723734.3:c.342C>T	XP_006723797.1:p.Asp114=
XM_011528655.2:c.342C>T	XP_011526957.1:p.Asp114=
XM_024451847.1:c.342C>T	XP_024307615.1:p.Asp114=
XM_024451848.1:c.342C>T	XP_024307616.1:p.Asp114=
XR_002958461.1:n.740C>T
XR_002958462.1:n.740C>T
XR_936513.2:n.739C>T
NM_207034.3:c.342C>T MANE Select	NP_996917.1:p.Asp114=
NM_001302455.2:c.342C>T	NP_001289384.1:p.Asp114=
NM_001302456.2:c.342C>T	NP_001289385.1:p.Asp114=
NM_207032.3:c.342C>T	NP_996915.1:p.Asp114=
NM_207033.3:c.342C>T	NP_996916.1:p.Asp114=