Canonical Allele Identifier: CA1610831330

Gene: EDN1

Linked Data

• dbSNP Id: rs142576582
• gnomAD v4: 6-12296359-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296371_12296372dup , CM000668.2:g.12296371_12296372dup	GRCh38
NC_000006.11:g.12296604_12296605dup , CM000668.1:g.12296604_12296605dup	GRCh37
NC_000006.10:g.12404590_12404591dup	NCBI36
NG_016196.1:g.11076_11077dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.*304_*305dup MANE Select	ENSP00000368683.5:n.*304_*305dup
ENST00000379375.5:c.*304_*305dup	ENSP00000368683.5:n.*304_*305dup
NM_001168319.1:c.*304_*305dup	NP_001161791.1:n.*304_*305dup
NM_001955.4:c.*304_*305dup	NP_001946.3:n.*304_*305dup
XM_011514330.1:c.*304_*305dup	XP_011512632.1:n.*304_*305dup
XM_011514331.1:c.*304_*305dup	XP_011512633.1:n.*304_*305dup
XM_011514332.1:c.*304_*305dup	XP_011512634.1:n.*304_*305dup
XM_011514330.2:c.*304_*305dup	XP_011512632.1:n.*304_*305dup
XM_011514331.3:c.*304_*305dup	XP_011512633.1:n.*304_*305dup
XM_011514332.2:c.*304_*305dup	XP_011512634.1:n.*304_*305dup
XM_017010331.1:c.*304_*305dup	XP_016865820.1:n.*304_*305dup
NM_001955.5:c.*304_*305dup MANE Select	NP_001946.3:n.*304_*305dup
NM_001168319.2:c.*304_*305dup	NP_001161791.1:n.*304_*305dup