Canonical Allele Identifier: CA448427714

Gene: EDN1

Linked Data

• gnomAD v4: 6-12292456-T-C
• MyVariant Identifiers: chr6:g.12292689T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292456T>C , CM000668.2:g.12292456T>C	GRCh38
NC_000006.11:g.12292689T>C , CM000668.1:g.12292689T>C	GRCh37
NC_000006.10:g.12400675T>C	NCBI36
NG_016196.1:g.7161T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.180T>C MANE Select	ENSP00000368683.5:p.Asp60=
ENST00000379375.5:c.180T>C	ENSP00000368683.5:p.Asp60=
NM_001168319.1:c.177T>C	NP_001161791.1:p.Asp59=
NM_001955.4:c.180T>C	NP_001946.3:p.Asp60=
XM_011514330.1:c.180T>C	XP_011512632.1:p.Asp60=
XM_011514331.1:c.180T>C	XP_011512633.1:p.Asp60=
XM_011514332.1:c.177T>C	XP_011512634.1:p.Asp59=
XM_011514330.2:c.180T>C	XP_011512632.1:p.Asp60=
XM_011514331.3:c.180T>C	XP_011512633.1:p.Asp60=
XM_011514332.2:c.177T>C	XP_011512634.1:p.Asp59=
XM_017010331.1:c.180T>C	XP_016865820.1:p.Asp60=
NM_001955.5:c.180T>C MANE Select	NP_001946.3:p.Asp60=
NM_001168319.2:c.177T>C	NP_001161791.1:p.Asp59=