Canonical Allele Identifier: CA1086089646
Gene: EDN1 HGNC NCBI

Linked Data

dbSNP Id: rs1762637096
gnomAD v3: 6-12290290-A-G
gnomAD v4: 6-12290290-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12290290A>G , CM000668.2:g.12290290A>G GRCh38
NC_000006.11:g.12290523A>G , CM000668.1:g.12290523A>G GRCh37
NC_000006.10:g.12398509A>G NCBI36
NG_016196.1:g.4995A>G

Transcript Alleles

HGVS Amino-acid Change
XM_011514330.1:c.-1-339A>G XP_011512632.1:n.-1-339A>G
XM_011514331.1:c.-1-339A>G XP_011512633.1:n.-1-339A>G
XM_011514332.1:c.-1-339A>G XP_011512634.1:n.-1-339A>G
XM_011514330.2:c.-1-339A>G XP_011512632.1:n.-1-339A>G
XM_011514331.3:c.-1-339A>G XP_011512633.1:n.-1-339A>G
XM_011514332.2:c.-1-339A>G XP_011512634.1:n.-1-339A>G
XM_017010331.1:c.-2+167A>G XP_016865820.1:n.-2+167A>G