Canonical Allele Identifier: CA3638573

Gene: EDN1

Linked Data

• dbSNP Id: rs372164724
• ExAC: 6:12290903 C / CT
• gnomAD v2: 6-12290903-C-CT
• gnomAD v4: 6-12290670-C-CT
• MyVariant Identifiers: chr6:g.12290903_12290904insT (hg19) ; chr6:g.12290670_12290671insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290672dup , CM000668.2:g.12290672dup	GRCh38
NC_000006.11:g.12290905dup , CM000668.1:g.12290905dup	GRCh37
NC_000006.10:g.12398891dup	NCBI36
NG_016196.1:g.5377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.43dup MANE Select	ENSP00000368683.5:p.Cys15LeufsTer13
ENST00000379375.5:c.43dup	ENSP00000368683.5:p.Cys15LeufsTer13
NM_001168319.1:c.43dup	NP_001161791.1:p.Cys15LeufsTer12
NM_001955.4:c.43dup	NP_001946.3:p.Cys15LeufsTer13
XM_011514330.1:c.43dup	XP_011512632.1:p.Cys15LeufsTer13
XM_011514331.1:c.43dup	XP_011512633.1:p.Cys15LeufsTer13
XM_011514332.1:c.43dup	XP_011512634.1:p.Cys15LeufsTer12
XM_011514330.2:c.43dup	XP_011512632.1:p.Cys15LeufsTer13
XM_011514331.3:c.43dup	XP_011512633.1:p.Cys15LeufsTer13
XM_011514332.2:c.43dup	XP_011512634.1:p.Cys15LeufsTer12
XM_017010331.1:c.43dup	XP_016865820.1:p.Cys15LeufsTer13
NM_001955.5:c.43dup MANE Select	NP_001946.3:p.Cys15LeufsTer13
NM_001168319.2:c.43dup	NP_001161791.1:p.Cys15LeufsTer12