Canonical Allele Identifier: CA2677350299

Gene: EDN1

Linked Data

• gnomAD v4: 6-12295836-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12295839dup , CM000668.2:g.12295839dup	GRCh38
NC_000006.11:g.12296072dup , CM000668.1:g.12296072dup	GRCh37
NC_000006.10:g.12404058dup	NCBI36
NG_016196.1:g.10544dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.534-123dup MANE Select	ENSP00000368683.5:n.534-123dup
ENST00000379375.5:c.534-123dup	ENSP00000368683.5:n.534-123dup
NM_001168319.1:c.531-123dup	NP_001161791.1:n.531-123dup
NM_001955.4:c.534-123dup	NP_001946.3:n.534-123dup
XM_011514330.1:c.534-123dup	XP_011512632.1:n.534-123dup
XM_011514331.1:c.534-123dup	XP_011512633.1:n.534-123dup
XM_011514332.1:c.531-123dup	XP_011512634.1:n.531-123dup
XM_011514330.2:c.534-123dup	XP_011512632.1:n.534-123dup
XM_011514331.3:c.534-123dup	XP_011512633.1:n.534-123dup
XM_011514332.2:c.531-123dup	XP_011512634.1:n.531-123dup
XM_017010331.1:c.534-123dup	XP_016865820.1:n.534-123dup
NM_001955.5:c.534-123dup MANE Select	NP_001946.3:n.534-123dup
NM_001168319.2:c.531-123dup	NP_001161791.1:n.531-123dup