Canonical Allele Identifier: CA565606428

Gene: EDN1

Linked Data

• dbSNP Id: rs1206384488
• gnomAD v2: 6-12290735-GC-G
• gnomAD v3: 6-12290502-GC-G
• gnomAD v4: 6-12290502-GC-G
• MyVariant Identifiers: chr6:g.12290736del (hg19) ; chr6:g.12290503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290503del , CM000668.2:g.12290503del	GRCh38
NC_000006.11:g.12290736del , CM000668.1:g.12290736del	GRCh37
NC_000006.10:g.12398722del	NCBI36
NG_016196.1:g.5208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-127del MANE Select	ENSP00000368683.5:n.-127del
ENST00000379375.5:c.-127del	ENSP00000368683.5:n.-127del
NM_001168319.1:c.-127del	NP_001161791.1:n.-127del
NM_001955.4:c.-127del	NP_001946.3:n.-127del
XM_011514330.1:c.-1-126del	XP_011512632.1:n.-1-126del
XM_011514331.1:c.-1-126del	XP_011512633.1:n.-1-126del
XM_011514332.1:c.-1-126del	XP_011512634.1:n.-1-126del
XM_011514330.2:c.-1-126del	XP_011512632.1:n.-1-126del
XM_011514331.3:c.-1-126del	XP_011512633.1:n.-1-126del
XM_011514332.2:c.-1-126del	XP_011512634.1:n.-1-126del
XM_017010331.1:c.-1-126del	XP_016865820.1:n.-1-126del
NM_001955.5:c.-127del MANE Select	NP_001946.3:n.-127del
NM_001168319.2:c.-127del	NP_001161791.1:n.-127del