Canonical Allele Identifier: CA150780

Gene: EDN1

Linked Data

• ClinVar Variation Id: 120213
• ClinVar RCV Id: RCV000106313
• dbSNP Id: rs587777232
• MyVariant Identifiers: chr6:g.12292739C>A (hg19) ; chr6:g.12292506C>A (hg38)
• PubMed: PMID:12244558 ; PMID:24268655

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292506C>A , CM000668.2:g.12292506C>A	GRCh38
NC_000006.11:g.12292739C>A , CM000668.1:g.12292739C>A	GRCh37
NC_000006.10:g.12400725C>A	NCBI36
NG_016196.1:g.7211C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.230C>A MANE Select	ENSP00000368683.5:p.Pro77His
ENST00000379375.5:c.230C>A	ENSP00000368683.5:p.Pro77His
NM_001168319.1:c.227C>A	NP_001161791.1:p.Pro76His
NM_001955.4:c.230C>A	NP_001946.3:p.Pro77His
XM_011514330.1:c.230C>A	XP_011512632.1:p.Pro77His
XM_011514331.1:c.230C>A	XP_011512633.1:p.Pro77His
XM_011514332.1:c.227C>A	XP_011512634.1:p.Pro76His
XM_011514330.2:c.230C>A	XP_011512632.1:p.Pro77His
XM_011514331.3:c.230C>A	XP_011512633.1:p.Pro77His
XM_011514332.2:c.227C>A	XP_011512634.1:p.Pro76His
XM_017010331.1:c.230C>A	XP_016865820.1:p.Pro77His
NM_001955.5:c.230C>A MANE Select	NP_001946.3:p.Pro77His
NM_001168319.2:c.227C>A	NP_001161791.1:p.Pro76His