Canonical Allele Identifier: CA2533804147
Gene: EDN1 HGNC NCBI

Linked Data

gnomAD v4: 6-12290249-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12290249T>G , CM000668.2:g.12290249T>G GRCh38
NC_000006.11:g.12290482T>G , CM000668.1:g.12290482T>G GRCh37
NC_000006.10:g.12398468T>G NCBI36
NG_016196.1:g.4954T>G

Transcript Alleles

HGVS Amino-acid Change
XM_011514330.1:c.-1-380T>G XP_011512632.1:n.-1-380T>G
XM_011514331.1:c.-1-380T>G XP_011512633.1:n.-1-380T>G
XM_011514332.1:c.-1-380T>G XP_011512634.1:n.-1-380T>G
XM_011514330.2:c.-1-380T>G XP_011512632.1:n.-1-380T>G
XM_011514331.3:c.-1-380T>G XP_011512633.1:n.-1-380T>G
XM_011514332.2:c.-1-380T>G XP_011512634.1:n.-1-380T>G
XM_017010331.1:c.-2+126T>G XP_016865820.1:n.-2+126T>G
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