Canonical Allele Identifier: CA362857054

Gene: EDN1

Linked Data

• dbSNP Id: rs1176491837
• gnomAD v2: 6-12294570-A-T
• gnomAD v4: 6-12294337-A-T
• MyVariant Identifiers: chr6:g.12294570A>T (hg19) ; chr6:g.12294337A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12294337A>T , CM000668.2:g.12294337A>T	GRCh38
NC_000006.11:g.12294570A>T , CM000668.1:g.12294570A>T	GRCh37
NC_000006.10:g.12402556A>T	NCBI36
NG_016196.1:g.9042A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.466A>T MANE Select	ENSP00000368683.5:p.Ile156Phe
ENST00000379375.5:c.466A>T	ENSP00000368683.5:p.Ile156Phe
NM_001168319.1:c.463A>T	NP_001161791.1:p.Ile155Phe
NM_001955.4:c.466A>T	NP_001946.3:p.Ile156Phe
XM_011514330.1:c.466A>T	XP_011512632.1:p.Ile156Phe
XM_011514331.1:c.466A>T	XP_011512633.1:p.Ile156Phe
XM_011514332.1:c.463A>T	XP_011512634.1:p.Ile155Phe
XM_011514330.2:c.466A>T	XP_011512632.1:p.Ile156Phe
XM_011514331.3:c.466A>T	XP_011512633.1:p.Ile156Phe
XM_011514332.2:c.463A>T	XP_011512634.1:p.Ile155Phe
XM_017010331.1:c.466A>T	XP_016865820.1:p.Ile156Phe
NM_001955.5:c.466A>T MANE Select	NP_001946.3:p.Ile156Phe
NM_001168319.2:c.463A>T	NP_001161791.1:p.Ile155Phe