Canonical Allele Identifier: CA818251790

Gene: EDN1

Linked Data

• dbSNP Id: rs1416222625
• gnomAD v3: 6-12290748-TC-T
• gnomAD v4: 6-12290748-TC-T
• MyVariant Identifiers: chr6:g.12290982del (hg19) ; chr6:g.12290749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290750del , CM000668.2:g.12290750del	GRCh38
NC_000006.11:g.12290983del , CM000668.1:g.12290983del	GRCh37
NC_000006.10:g.12398969del	NCBI36
NG_016196.1:g.5455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.64+57del MANE Select	ENSP00000368683.5:n.64+57del
ENST00000379375.5:c.64+57del	ENSP00000368683.5:n.64+57del
NM_001168319.1:c.64+57del	NP_001161791.1:n.64+57del
NM_001955.4:c.64+57del	NP_001946.3:n.64+57del
XM_011514330.1:c.64+57del	XP_011512632.1:n.64+57del
XM_011514331.1:c.64+57del	XP_011512633.1:n.64+57del
XM_011514332.1:c.64+57del	XP_011512634.1:n.64+57del
XM_011514330.2:c.64+57del	XP_011512632.1:n.64+57del
XM_011514331.3:c.64+57del	XP_011512633.1:n.64+57del
XM_011514332.2:c.64+57del	XP_011512634.1:n.64+57del
XM_017010331.1:c.64+57del	XP_016865820.1:n.64+57del
NM_001955.5:c.64+57del MANE Select	NP_001946.3:n.64+57del
NM_001168319.2:c.64+57del	NP_001161791.1:n.64+57del