Canonical Allele Identifier: CA362857185

Gene: EDN1

Linked Data

• gnomAD v4: 6-12294397-C-A
• MyVariant Identifiers: chr6:g.12294630C>A (hg19) ; chr6:g.12294397C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12294397C>A , CM000668.2:g.12294397C>A	GRCh38
NC_000006.11:g.12294630C>A , CM000668.1:g.12294630C>A	GRCh37
NC_000006.10:g.12402616C>A	NCBI36
NG_016196.1:g.9102C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.526C>A MANE Select	ENSP00000368683.5:p.Gln176Lys
ENST00000379375.5:c.526C>A	ENSP00000368683.5:p.Gln176Lys
NM_001168319.1:c.523C>A	NP_001161791.1:p.Gln175Lys
NM_001955.4:c.526C>A	NP_001946.3:p.Gln176Lys
XM_011514330.1:c.526C>A	XP_011512632.1:p.Gln176Lys
XM_011514331.1:c.526C>A	XP_011512633.1:p.Gln176Lys
XM_011514332.1:c.523C>A	XP_011512634.1:p.Gln175Lys
XM_011514330.2:c.526C>A	XP_011512632.1:p.Gln176Lys
XM_011514331.3:c.526C>A	XP_011512633.1:p.Gln176Lys
XM_011514332.2:c.523C>A	XP_011512634.1:p.Gln175Lys
XM_017010331.1:c.526C>A	XP_016865820.1:p.Gln176Lys
NM_001955.5:c.526C>A MANE Select	NP_001946.3:p.Gln176Lys
NM_001168319.2:c.523C>A	NP_001161791.1:p.Gln175Lys