Canonical Allele Identifier: CA565607947

Gene: EDN1

Linked Data

• dbSNP Id: rs1363194914
• gnomAD v2: 6-12294037-AC-A
• gnomAD v4: 6-12293804-AC-A
• MyVariant Identifiers: chr6:g.12294038del (hg19) ; chr6:g.12293805del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12293805del , CM000668.2:g.12293805del	GRCh38
NC_000006.11:g.12294038del , CM000668.1:g.12294038del	GRCh37
NC_000006.10:g.12402024del	NCBI36
NG_016196.1:g.8510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.234-136del MANE Select	ENSP00000368683.5:n.234-136del
ENST00000379375.5:c.234-136del	ENSP00000368683.5:n.234-136del
NM_001168319.1:c.231-136del	NP_001161791.1:n.231-136del
NM_001955.4:c.234-136del	NP_001946.3:n.234-136del
XM_011514330.1:c.234-136del	XP_011512632.1:n.234-136del
XM_011514331.1:c.234-136del	XP_011512633.1:n.234-136del
XM_011514332.1:c.231-136del	XP_011512634.1:n.231-136del
XM_011514330.2:c.234-136del	XP_011512632.1:n.234-136del
XM_011514331.3:c.234-136del	XP_011512633.1:n.234-136del
XM_011514332.2:c.231-136del	XP_011512634.1:n.231-136del
XM_017010331.1:c.234-136del	XP_016865820.1:n.234-136del
NM_001955.5:c.234-136del MANE Select	NP_001946.3:n.234-136del
NM_001168319.2:c.231-136del	NP_001161791.1:n.231-136del