Canonical Allele Identifier: CA9930392

Gene: EDN3

Linked Data

• dbSNP Id: rs151250216
• ExAC: 20:57896214 C / T
• gnomAD v2: 20-57896214-C-T
• gnomAD v3: 20-59321159-C-T
• gnomAD v4: 20-59321159-C-T
• MyVariant Identifiers: chr20:g.57896214C>T (hg19) ; chr20:g.59321159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59321159C>T , CM000682.2:g.59321159C>T	GRCh38
NC_000020.10:g.57896214C>T , CM000682.1:g.57896214C>T	GRCh37
NC_000020.9:g.57329609C>T	NCBI36
NG_008050.1:g.25716C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337938.7:c.508C>T MANE Select	ENSP00000337128.2:p.Leu170=
ENST00000644821.1:c.508C>T	ENSP00000493472.1:p.Leu170=
ENST00000671744.1:n.1149C>T
ENST00000672969.1:c.345C>T
ENST00000311585.11:c.508C>T	ENSP00000311854.7:p.Leu170=
ENST00000337938.6:c.508C>T	ENSP00000337128.2:p.Leu170=
ENST00000371025.7:c.508C>T	ENSP00000360064.3:p.Leu170=
ENST00000371028.6:c.508C>T	ENSP00000360067.2:p.Leu170=
ENST00000395654.3:c.508C>T	ENSP00000379015.3:p.Leu170=
NM_001302455.1:c.508C>T	NP_001289384.1:p.Leu170=
NM_001302456.1:c.508C>T	NP_001289385.1:p.Leu170=
NM_207032.2:c.508C>T	NP_996915.1:p.Leu170=
NM_207033.2:c.508C>T	NP_996916.1:p.Leu170=
NM_207034.2:c.508C>T	NP_996917.1:p.Leu170=
XM_005260312.3:c.508C>T	XP_005260369.1:p.Leu170=
XM_005260313.3:c.508C>T	XP_005260370.1:p.Leu170=
XM_006723734.2:c.508C>T	XP_006723797.1:p.Leu170=
XM_011528655.1:c.508C>T	XP_011526957.1:p.Leu170=
XR_936513.1:n.897C>T
XM_005260312.4:c.508C>T	XP_005260369.1:p.Leu170=
XM_005260313.5:c.508C>T	XP_005260370.1:p.Leu170=
XM_006723734.3:c.508C>T	XP_006723797.1:p.Leu170=
XM_011528655.2:c.508C>T	XP_011526957.1:p.Leu170=
XM_024451847.1:c.508C>T	XP_024307615.1:p.Leu170=
XM_024451848.1:c.508C>T	XP_024307616.1:p.Leu170=
XR_002958461.1:n.906C>T
XR_002958462.1:n.906C>T
XR_936513.2:n.905C>T
NM_207034.3:c.508C>T MANE Select	NP_996917.1:p.Leu170=
NM_001302455.2:c.508C>T	NP_001289384.1:p.Leu170=
NM_001302456.2:c.508C>T	NP_001289385.1:p.Leu170=
NM_207032.3:c.508C>T	NP_996915.1:p.Leu170=
NM_207033.3:c.508C>T	NP_996916.1:p.Leu170=