Canonical Allele Identifier: CA3638744
Gene: EDN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1294754
ClinVar RCV Id: RCV001720658

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295924dup , CM000668.2:g.12295924dup GRCh38
NC_000006.11:g.12296157dup , CM000668.1:g.12296157dup GRCh37
NC_000006.10:g.12404143dup NCBI36
NG_016196.1:g.10629dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.534-38dup MANE Select ENSP00000368683.5:n.534-38dup
ENST00000379375.5:c.534-38dup ENSP00000368683.5:n.534-38dup
NM_001168319.1:c.531-38dup NP_001161791.1:n.531-38dup
NM_001955.4:c.534-38dup NP_001946.3:n.534-38dup
XM_011514330.1:c.534-38dup XP_011512632.1:n.534-38dup
XM_011514331.1:c.534-38dup XP_011512633.1:n.534-38dup
XM_011514332.1:c.531-38dup XP_011512634.1:n.531-38dup
XM_011514330.2:c.534-38dup XP_011512632.1:n.534-38dup
XM_011514331.3:c.534-38dup XP_011512633.1:n.534-38dup
XM_011514332.2:c.531-38dup XP_011512634.1:n.531-38dup
XM_017010331.1:c.534-38dup XP_016865820.1:n.534-38dup
NM_001955.5:c.534-38dup MANE Select NP_001946.3:n.534-38dup
NM_001168319.2:c.531-38dup NP_001161791.1:n.531-38dup