Canonical Allele Identifier: CA3638730

Gene: EDN1

Linked Data

• ClinVar Variation Id: 445411
• ClinVar RCV Id: RCV000514748
• dbSNP Id: rs149316725
• ExAC: 6:12294621 C / A
• gnomAD v2: 6-12294621-C-A
• gnomAD v3: 6-12294388-C-A
• gnomAD v4: 6-12294388-C-A
• MyVariant Identifiers: chr6:g.12294621C>A (hg19) ; chr6:g.12294388C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12294388C>A , CM000668.2:g.12294388C>A	GRCh38
NC_000006.11:g.12294621C>A , CM000668.1:g.12294621C>A	GRCh37
NC_000006.10:g.12402607C>A	NCBI36
NG_016196.1:g.9093C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.517C>A MANE Select	ENSP00000368683.5:p.His173Asn
ENST00000379375.5:c.517C>A	ENSP00000368683.5:p.His173Asn
NM_001168319.1:c.514C>A	NP_001161791.1:p.His172Asn
NM_001955.4:c.517C>A	NP_001946.3:p.His173Asn
XM_011514330.1:c.517C>A	XP_011512632.1:p.His173Asn
XM_011514331.1:c.517C>A	XP_011512633.1:p.His173Asn
XM_011514332.1:c.514C>A	XP_011512634.1:p.His172Asn
XM_011514330.2:c.517C>A	XP_011512632.1:p.His173Asn
XM_011514331.3:c.517C>A	XP_011512633.1:p.His173Asn
XM_011514332.2:c.514C>A	XP_011512634.1:p.His172Asn
XM_017010331.1:c.517C>A	XP_016865820.1:p.His173Asn
NM_001955.5:c.517C>A MANE Select	NP_001946.3:p.His173Asn
NM_001168319.2:c.514C>A	NP_001161791.1:p.His172Asn