Canonical Allele Identifier: CA2677349513
Gene: EDN1 HGNC NCBI

Linked Data

gnomAD v4: 6-12290225-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12290225T>A , CM000668.2:g.12290225T>A GRCh38
NC_000006.11:g.12290458T>A , CM000668.1:g.12290458T>A GRCh37
NC_000006.10:g.12398444T>A NCBI36
NG_016196.1:g.4930T>A

Transcript Alleles

HGVS Amino-acid Change
XM_011514330.1:c.-1-404T>A XP_011512632.1:n.-1-404T>A
XM_011514331.1:c.-1-404T>A XP_011512633.1:n.-1-404T>A
XM_011514332.1:c.-1-404T>A XP_011512634.1:n.-1-404T>A
XM_011514330.2:c.-1-404T>A XP_011512632.1:n.-1-404T>A
XM_011514331.3:c.-1-404T>A XP_011512633.1:n.-1-404T>A
XM_011514332.2:c.-1-404T>A XP_011512634.1:n.-1-404T>A
XM_017010331.1:c.-2+102T>A XP_016865820.1:n.-2+102T>A