Canonical Allele Identifier: CA362857210
Gene: EDN1 HGNC NCBI

Linked Data

gnomAD v4: 6-12295960-A-G
COSMIC: COSM358019

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295960A>G , CM000668.2:g.12295960A>G GRCh38
NC_000006.11:g.12296193A>G , CM000668.1:g.12296193A>G GRCh37
NC_000006.10:g.12404179A>G NCBI36
NG_016196.1:g.10665A>G

Transcript Alleles

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