Canonical Allele Identifier: CA362856297

Gene: EDN1

Linked Data

• dbSNP Id: rs1239711154
• gnomAD v2: 6-12292651-C-T
• gnomAD v3: 6-12292418-C-T
• gnomAD v4: 6-12292418-C-T
• MyVariant Identifiers: chr6:g.12292651C>T (hg19) ; chr6:g.12292418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292418C>T , CM000668.2:g.12292418C>T	GRCh38
NC_000006.11:g.12292651C>T , CM000668.1:g.12292651C>T	GRCh37
NC_000006.10:g.12400637C>T	NCBI36
NG_016196.1:g.7123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.142C>T MANE Select	ENSP00000368683.5:p.Arg48Cys
ENST00000379375.5:c.142C>T	ENSP00000368683.5:p.Arg48Cys
NM_001168319.1:c.139C>T	NP_001161791.1:p.Arg47Cys
NM_001955.4:c.142C>T	NP_001946.3:p.Arg48Cys
XM_011514330.1:c.142C>T	XP_011512632.1:p.Arg48Cys
XM_011514331.1:c.142C>T	XP_011512633.1:p.Arg48Cys
XM_011514332.1:c.139C>T	XP_011512634.1:p.Arg47Cys
XM_011514330.2:c.142C>T	XP_011512632.1:p.Arg48Cys
XM_011514331.3:c.142C>T	XP_011512633.1:p.Arg48Cys
XM_011514332.2:c.139C>T	XP_011512634.1:p.Arg47Cys
XM_017010331.1:c.142C>T	XP_016865820.1:p.Arg48Cys
NM_001955.5:c.142C>T MANE Select	NP_001946.3:p.Arg48Cys
NM_001168319.2:c.139C>T	NP_001161791.1:p.Arg47Cys