Canonical Allele Identifier: CA2677349576
Gene: EDN1 HGNC NCBI

Linked Data

gnomAD v4: 6-12290312-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12290312A>G , CM000668.2:g.12290312A>G GRCh38
NC_000006.11:g.12290545A>G , CM000668.1:g.12290545A>G GRCh37
NC_000006.10:g.12398531A>G NCBI36
NG_016196.1:g.5017A>G

Transcript Alleles

HGVS Amino-acid change
NM_001168319.1:c.-318A>G NP_001161791.1:n.-318A>G
NM_001955.4:c.-318A>G NP_001946.3:n.-318A>G
XM_011514330.1:c.-1-317A>G XP_011512632.1:n.-1-317A>G
XM_011514331.1:c.-1-317A>G XP_011512633.1:n.-1-317A>G
XM_011514332.1:c.-1-317A>G XP_011512634.1:n.-1-317A>G
XM_011514330.2:c.-1-317A>G XP_011512632.1:n.-1-317A>G
XM_011514331.3:c.-1-317A>G XP_011512633.1:n.-1-317A>G
XM_011514332.2:c.-1-317A>G XP_011512634.1:n.-1-317A>G
XM_017010331.1:c.-2+189A>G XP_016865820.1:n.-2+189A>G
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