Canonical Allele Identifier: CA9930322
Gene: EDN3 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59301650C>A , CM000682.2:g.59301650C>A GRCh38
NC_000020.10:g.57876705C>A , CM000682.1:g.57876705C>A GRCh37
NC_000020.9:g.57310100C>A NCBI36
NG_008050.1:g.6207C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337938.7:c.293C>A MANE Select ENSP00000337128.2:p.Thr98Lys
ENST00000644821.1:c.293C>A ENSP00000493472.1:p.Thr98Lys
ENST00000671744.1:n.934C>A
ENST00000672969.1:c.130C>A
ENST00000311585.11:c.293C>A ENSP00000311854.7:p.Thr98Lys
ENST00000337938.6:c.293C>A ENSP00000337128.2:p.Thr98Lys
ENST00000371025.7:c.293C>A ENSP00000360064.3:p.Thr98Lys
ENST00000371028.6:c.293C>A ENSP00000360067.2:p.Thr98Lys
ENST00000395654.3:c.293C>A ENSP00000379015.3:p.Thr98Lys
NM_001302455.1:c.293C>A NP_001289384.1:p.Thr98Lys
NM_001302456.1:c.293C>A NP_001289385.1:p.Thr98Lys
NM_207032.2:c.293C>A NP_996915.1:p.Thr98Lys
NM_207033.2:c.293C>A NP_996916.1:p.Thr98Lys
NM_207034.2:c.293C>A NP_996917.1:p.Thr98Lys
XM_005260312.3:c.293C>A XP_005260369.1:p.Thr98Lys
XM_005260313.3:c.293C>A XP_005260370.1:p.Thr98Lys
XM_006723734.2:c.293C>A XP_006723797.1:p.Thr98Lys
XM_011528655.1:c.293C>A XP_011526957.1:p.Thr98Lys
XR_936513.1:n.682C>A
XM_005260312.4:c.293C>A XP_005260369.1:p.Thr98Lys
XM_005260313.5:c.293C>A XP_005260370.1:p.Thr98Lys
XM_006723734.3:c.293C>A XP_006723797.1:p.Thr98Lys
XM_011528655.2:c.293C>A XP_011526957.1:p.Thr98Lys
XM_024451847.1:c.293C>A XP_024307615.1:p.Thr98Lys
XM_024451848.1:c.293C>A XP_024307616.1:p.Thr98Lys
XR_002958461.1:n.691C>A
XR_002958462.1:n.691C>A
XR_936513.2:n.690C>A
NM_207034.3:c.293C>A MANE Select NP_996917.1:p.Thr98Lys
NM_001302455.2:c.293C>A NP_001289384.1:p.Thr98Lys
NM_001302456.2:c.293C>A NP_001289385.1:p.Thr98Lys
NM_207032.3:c.293C>A NP_996915.1:p.Thr98Lys
NM_207033.3:c.293C>A NP_996916.1:p.Thr98Lys