Canonical Allele Identifier: CA2677349758

Gene: EDN1

Linked Data

• gnomAD v4: 6-12290504-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290504A>C , CM000668.2:g.12290504A>C	GRCh38
NC_000006.11:g.12290737A>C , CM000668.1:g.12290737A>C	GRCh37
NC_000006.10:g.12398723A>C	NCBI36
NG_016196.1:g.5209A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.-126A>C MANE Select	ENSP00000368683.5:n.-126A>C
ENST00000379375.5:c.-126A>C	ENSP00000368683.5:n.-126A>C
NM_001168319.1:c.-126A>C	NP_001161791.1:n.-126A>C
NM_001955.4:c.-126A>C	NP_001946.3:n.-126A>C
XM_011514330.1:c.-1-125A>C	XP_011512632.1:n.-1-125A>C
XM_011514331.1:c.-1-125A>C	XP_011512633.1:n.-1-125A>C
XM_011514332.1:c.-1-125A>C	XP_011512634.1:n.-1-125A>C
XM_011514330.2:c.-1-125A>C	XP_011512632.1:n.-1-125A>C
XM_011514331.3:c.-1-125A>C	XP_011512633.1:n.-1-125A>C
XM_011514332.2:c.-1-125A>C	XP_011512634.1:n.-1-125A>C
XM_017010331.1:c.-1-125A>C	XP_016865820.1:n.-1-125A>C
NM_001955.5:c.-126A>C MANE Select	NP_001946.3:n.-126A>C
NM_001168319.2:c.-126A>C	NP_001161791.1:n.-126A>C