Canonical Allele Identifier: CA3638790

Gene: EDN1

Linked Data

• dbSNP Id: rs767799769
• ExAC: 6:12296319 C / A
• gnomAD v2: 6-12296319-C-A
• MyVariant Identifiers: chr6:g.12296319C>A (hg19) ; chr6:g.12296086C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296086C>A , CM000668.2:g.12296086C>A	GRCh38
NC_000006.11:g.12296319C>A , CM000668.1:g.12296319C>A	GRCh37
NC_000006.10:g.12404305C>A	NCBI36
NG_016196.1:g.10791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.*19C>A MANE Select	ENSP00000368683.5:n.*19C>A
ENST00000379375.5:c.*19C>A	ENSP00000368683.5:n.*19C>A
NM_001168319.1:c.*19C>A	NP_001161791.1:n.*19C>A
NM_001955.4:c.*19C>A	NP_001946.3:n.*19C>A
XM_011514330.1:c.*19C>A	XP_011512632.1:n.*19C>A
XM_011514331.1:c.*19C>A	XP_011512633.1:n.*19C>A
XM_011514332.1:c.*19C>A	XP_011512634.1:n.*19C>A
XM_011514330.2:c.*19C>A	XP_011512632.1:n.*19C>A
XM_011514331.3:c.*19C>A	XP_011512633.1:n.*19C>A
XM_011514332.2:c.*19C>A	XP_011512634.1:n.*19C>A
XM_017010331.1:c.*19C>A	XP_016865820.1:n.*19C>A
NM_001955.5:c.*19C>A MANE Select	NP_001946.3:n.*19C>A
NM_001168319.2:c.*19C>A	NP_001161791.1:n.*19C>A