Canonical Allele Identifier: CA1086089144

Gene: EDN1

Linked Data

• dbSNP Id: rs1762610069
• gnomAD v3: 6-12288897-G-A
• gnomAD v4: 6-12288897-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12288897G>A , CM000668.2:g.12288897G>A	GRCh38
NC_000006.11:g.12289130G>A , CM000668.1:g.12289130G>A	GRCh37
NC_000006.10:g.12397116G>A	NCBI36
NG_016196.1:g.3602G>A

Transcript Alleles

HGVS	Amino-acid change
XM_011514330.1:c.-2+402G>A	XP_011512632.1:n.-2+402G>A
XM_011514331.1:c.-1-1732G>A	XP_011512633.1:n.-1-1732G>A
XM_011514332.1:c.-2+402G>A	XP_011512634.1:n.-2+402G>A
XM_011514330.2:c.-2+402G>A	XP_011512632.1:n.-2+402G>A
XM_011514331.3:c.-1-1732G>A	XP_011512633.1:n.-1-1732G>A
XM_011514332.2:c.-2+402G>A	XP_011512634.1:n.-2+402G>A