Canonical Allele Identifier: CA818251339

Gene: EDN1

Linked Data

• dbSNP Id: rs1448460953
• gnomAD v3: 6-12290412-T-A
• gnomAD v4: 6-12290412-T-A
• MyVariant Identifiers: chr6:g.12290645T>A (hg19) ; chr6:g.12290412T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290412T>A , CM000668.2:g.12290412T>A	GRCh38
NC_000006.11:g.12290645T>A , CM000668.1:g.12290645T>A	GRCh37
NC_000006.10:g.12398631T>A	NCBI36
NG_016196.1:g.5117T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-218T>A MANE Select	ENSP00000368683.5:n.-218T>A
ENST00000379375.5:c.-218T>A	ENSP00000368683.5:n.-218T>A
NM_001168319.1:c.-218T>A	NP_001161791.1:n.-218T>A
NM_001955.4:c.-218T>A	NP_001946.3:n.-218T>A
XM_011514330.1:c.-1-217T>A	XP_011512632.1:n.-1-217T>A
XM_011514331.1:c.-1-217T>A	XP_011512633.1:n.-1-217T>A
XM_011514332.1:c.-1-217T>A	XP_011512634.1:n.-1-217T>A
XM_011514330.2:c.-1-217T>A	XP_011512632.1:n.-1-217T>A
XM_011514331.3:c.-1-217T>A	XP_011512633.1:n.-1-217T>A
XM_011514332.2:c.-1-217T>A	XP_011512634.1:n.-1-217T>A
XM_017010331.1:c.-1-217T>A	XP_016865820.1:n.-1-217T>A
NM_001955.5:c.-218T>A MANE Select	NP_001946.3:n.-218T>A
NM_001168319.2:c.-218T>A	NP_001161791.1:n.-218T>A