Canonical Allele Identifier: CA3638566

Gene: EDN1

Linked Data

• dbSNP Id: rs771918374
• ExAC: 6:12290840 G / GT
• gnomAD v2: 6-12290840-G-GT
• gnomAD v3: 6-12290607-G-GT
• gnomAD v4: 6-12290607-G-GT
• MyVariant Identifiers: chr6:g.12290840_12290841insT (hg19) ; chr6:g.12290607_12290608insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290612dup , CM000668.2:g.12290612dup	GRCh38
NC_000006.11:g.12290845dup , CM000668.1:g.12290845dup	GRCh37
NC_000006.10:g.12398831dup	NCBI36
NG_016196.1:g.5317dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-18dup MANE Select	ENSP00000368683.5:n.-18dup
ENST00000379375.5:c.-18dup	ENSP00000368683.5:n.-18dup
NM_001168319.1:c.-18dup	NP_001161791.1:n.-18dup
NM_001955.4:c.-18dup	NP_001946.3:n.-18dup
XM_011514330.1:c.-1-17dup	XP_011512632.1:n.-1-17dup
XM_011514331.1:c.-1-17dup	XP_011512633.1:n.-1-17dup
XM_011514332.1:c.-1-17dup	XP_011512634.1:n.-1-17dup
XM_011514330.2:c.-1-17dup	XP_011512632.1:n.-1-17dup
XM_011514331.3:c.-1-17dup	XP_011512633.1:n.-1-17dup
XM_011514332.2:c.-1-17dup	XP_011512634.1:n.-1-17dup
XM_017010331.1:c.-1-17dup	XP_016865820.1:n.-1-17dup
NM_001955.5:c.-18dup MANE Select	NP_001946.3:n.-18dup
NM_001168319.2:c.-18dup	NP_001161791.1:n.-18dup