Canonical Allele Identifier: CA448427736

Gene: EDN1

Linked Data

• gnomAD v4: 6-12292498-C-T
• MyVariant Identifiers: chr6:g.12292731C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292498C>T , CM000668.2:g.12292498C>T	GRCh38
NC_000006.11:g.12292731C>T , CM000668.1:g.12292731C>T	GRCh37
NC_000006.10:g.12400717C>T	NCBI36
NG_016196.1:g.7203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.222C>T MANE Select	ENSP00000368683.5:p.Val74=
ENST00000379375.5:c.222C>T	ENSP00000368683.5:p.Val74=
NM_001168319.1:c.219C>T	NP_001161791.1:p.Val73=
NM_001955.4:c.222C>T	NP_001946.3:p.Val74=
XM_011514330.1:c.222C>T	XP_011512632.1:p.Val74=
XM_011514331.1:c.222C>T	XP_011512633.1:p.Val74=
XM_011514332.1:c.219C>T	XP_011512634.1:p.Val73=
XM_011514330.2:c.222C>T	XP_011512632.1:p.Val74=
XM_011514331.3:c.222C>T	XP_011512633.1:p.Val74=
XM_011514332.2:c.219C>T	XP_011512634.1:p.Val73=
XM_017010331.1:c.222C>T	XP_016865820.1:p.Val74=
NM_001955.5:c.222C>T MANE Select	NP_001946.3:p.Val74=
NM_001168319.2:c.219C>T	NP_001161791.1:p.Val73=