Canonical Allele Identifier: CA2592166266
Gene: EDN1 HGNC NCBI

Linked Data

dbSNP Id: rs2113791996
gnomAD v3: 6-12290224-C-A
gnomAD v4: 6-12290224-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12290224C>A , CM000668.2:g.12290224C>A GRCh38
NC_000006.11:g.12290457C>A , CM000668.1:g.12290457C>A GRCh37
NC_000006.10:g.12398443C>A NCBI36
NG_016196.1:g.4929C>A

Transcript Alleles

HGVS Amino-acid Change
XM_011514330.1:c.-1-405C>A XP_011512632.1:n.-1-405C>A
XM_011514331.1:c.-1-405C>A XP_011512633.1:n.-1-405C>A
XM_011514332.1:c.-1-405C>A XP_011512634.1:n.-1-405C>A
XM_011514330.2:c.-1-405C>A XP_011512632.1:n.-1-405C>A
XM_011514331.3:c.-1-405C>A XP_011512633.1:n.-1-405C>A
XM_011514332.2:c.-1-405C>A XP_011512634.1:n.-1-405C>A
XM_017010331.1:c.-2+101C>A XP_016865820.1:n.-2+101C>A
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