Canonical Allele Identifier: CA2677349526
Gene: EDN1 HGNC NCBI

Linked Data

gnomAD v4: 6-12290238-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12290238C>A , CM000668.2:g.12290238C>A GRCh38
NC_000006.11:g.12290471C>A , CM000668.1:g.12290471C>A GRCh37
NC_000006.10:g.12398457C>A NCBI36
NG_016196.1:g.4943C>A

Transcript Alleles

HGVS Amino-acid Change
XM_011514330.1:c.-1-391C>A XP_011512632.1:n.-1-391C>A
XM_011514331.1:c.-1-391C>A XP_011512633.1:n.-1-391C>A
XM_011514332.1:c.-1-391C>A XP_011512634.1:n.-1-391C>A
XM_011514330.2:c.-1-391C>A XP_011512632.1:n.-1-391C>A
XM_011514331.3:c.-1-391C>A XP_011512633.1:n.-1-391C>A
XM_011514332.2:c.-1-391C>A XP_011512634.1:n.-1-391C>A
XM_017010331.1:c.-2+115C>A XP_016865820.1:n.-2+115C>A
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