Canonical Allele Identifier: CA565609634
Gene: EDN1 HGNC NCBI

Linked Data

dbSNP Id: rs772942482
gnomAD v2: 6-12296147-G-A
gnomAD v4: 6-12295914-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295914G>A , CM000668.2:g.12295914G>A GRCh38
NC_000006.11:g.12296147G>A , CM000668.1:g.12296147G>A GRCh37
NC_000006.10:g.12404133G>A NCBI36
NG_016196.1:g.10619G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.534-48G>A MANE Select ENSP00000368683.5:n.534-48G>A
ENST00000379375.5:c.534-48G>A ENSP00000368683.5:n.534-48G>A
NM_001168319.1:c.531-48G>A NP_001161791.1:n.531-48G>A
NM_001955.4:c.534-48G>A NP_001946.3:n.534-48G>A
XM_011514330.1:c.534-48G>A XP_011512632.1:n.534-48G>A
XM_011514331.1:c.534-48G>A XP_011512633.1:n.534-48G>A
XM_011514332.1:c.531-48G>A XP_011512634.1:n.531-48G>A
XM_011514330.2:c.534-48G>A XP_011512632.1:n.534-48G>A
XM_011514331.3:c.534-48G>A XP_011512633.1:n.534-48G>A
XM_011514332.2:c.531-48G>A XP_011512634.1:n.531-48G>A
XM_017010331.1:c.534-48G>A XP_016865820.1:n.534-48G>A
NM_001955.5:c.534-48G>A MANE Select NP_001946.3:n.534-48G>A
NM_001168319.2:c.531-48G>A NP_001161791.1:n.531-48G>A