Canonical Allele Identifier: CA3638756
Gene: EDN1 HGNC NCBI

Linked Data

dbSNP Id: rs781732466
gnomAD v2: 6-12296187-T-C
gnomAD v4: 6-12295954-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295954T>C , CM000668.2:g.12295954T>C GRCh38
NC_000006.11:g.12296187T>C , CM000668.1:g.12296187T>C GRCh37
NC_000006.10:g.12404173T>C NCBI36
NG_016196.1:g.10659T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.534-8T>C MANE Select ENSP00000368683.5:n.534-8T>C
ENST00000379375.5:c.534-8T>C ENSP00000368683.5:n.534-8T>C
NM_001168319.1:c.531-8T>C NP_001161791.1:n.531-8T>C
NM_001955.4:c.534-8T>C NP_001946.3:n.534-8T>C
XM_011514330.1:c.534-8T>C XP_011512632.1:n.534-8T>C
XM_011514331.1:c.534-8T>C XP_011512633.1:n.534-8T>C
XM_011514332.1:c.531-8T>C XP_011512634.1:n.531-8T>C
XM_011514330.2:c.534-8T>C XP_011512632.1:n.534-8T>C
XM_011514331.3:c.534-8T>C XP_011512633.1:n.534-8T>C
XM_011514332.2:c.531-8T>C XP_011512634.1:n.531-8T>C
XM_017010331.1:c.534-8T>C XP_016865820.1:n.534-8T>C
NM_001955.5:c.534-8T>C MANE Select NP_001946.3:n.534-8T>C
NM_001168319.2:c.531-8T>C NP_001161791.1:n.531-8T>C