Canonical Allele Identifier: CA3638727

Gene: EDN1

Linked Data

• dbSNP Id: rs763046520
• ExAC: 6:12294604 GAAGA / G
• MyVariant Identifiers: chr6:g.12294605_12294608del (hg19) ; chr6:g.12294372_12294375del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12294373_12294376del , CM000668.2:g.12294373_12294376del	GRCh38
NC_000006.11:g.12294606_12294609del , CM000668.1:g.12294606_12294609del	GRCh37
NC_000006.10:g.12402592_12402595del	NCBI36
NG_016196.1:g.9078_9081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.502_505del MANE Select	ENSP00000368683.5:p.Arg168ValfsTer6
ENST00000379375.5:c.502_505del	ENSP00000368683.5:p.Arg168ValfsTer6
NM_001168319.1:c.499_502del	NP_001161791.1:p.Arg167ValfsTer6
NM_001955.4:c.502_505del	NP_001946.3:p.Arg168ValfsTer6
XM_011514330.1:c.502_505del	XP_011512632.1:p.Arg168ValfsTer6
XM_011514331.1:c.502_505del	XP_011512633.1:p.Arg168ValfsTer6
XM_011514332.1:c.499_502del	XP_011512634.1:p.Arg167ValfsTer6
XM_011514330.2:c.502_505del	XP_011512632.1:p.Arg168ValfsTer6
XM_011514331.3:c.502_505del	XP_011512633.1:p.Arg168ValfsTer6
XM_011514332.2:c.499_502del	XP_011512634.1:p.Arg167ValfsTer6
XM_017010331.1:c.502_505del	XP_016865820.1:p.Arg168ValfsTer6
NM_001955.5:c.502_505del MANE Select	NP_001946.3:p.Arg168ValfsTer6
NM_001168319.2:c.499_502del	NP_001161791.1:p.Arg167ValfsTer6