Canonical Allele Identifier: CA565608527

Gene: EDN1

Linked Data

• dbSNP Id: rs1463759205
• gnomAD v2: 6-12294595-G-GA
• gnomAD v4: 6-12294362-G-GA
• MyVariant Identifiers: chr6:g.12294595_12294596insA (hg19) ; chr6:g.12294362_12294363insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12294367dup , CM000668.2:g.12294367dup	GRCh38
NC_000006.11:g.12294600dup , CM000668.1:g.12294600dup	GRCh37
NC_000006.10:g.12402586dup	NCBI36
NG_016196.1:g.9072dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.496dup MANE Select	ENSP00000368683.5:p.Ile166AsnfsTer27
ENST00000379375.5:c.496dup	ENSP00000368683.5:p.Ile166AsnfsTer27
NM_001168319.1:c.493dup	NP_001161791.1:p.Ile165AsnfsTer27
NM_001955.4:c.496dup	NP_001946.3:p.Ile166AsnfsTer27
XM_011514330.1:c.496dup	XP_011512632.1:p.Ile166AsnfsTer27
XM_011514331.1:c.496dup	XP_011512633.1:p.Ile166AsnfsTer27
XM_011514332.1:c.493dup	XP_011512634.1:p.Ile165AsnfsTer27
XM_011514330.2:c.496dup	XP_011512632.1:p.Ile166AsnfsTer27
XM_011514331.3:c.496dup	XP_011512633.1:p.Ile166AsnfsTer27
XM_011514332.2:c.493dup	XP_011512634.1:p.Ile165AsnfsTer27
XM_017010331.1:c.496dup	XP_016865820.1:p.Ile166AsnfsTer27
NM_001955.5:c.496dup MANE Select	NP_001946.3:p.Ile166AsnfsTer27
NM_001168319.2:c.493dup	NP_001161791.1:p.Ile165AsnfsTer27