Canonical Allele Identifier: CA134216854

Gene: EDN1

Linked Data

• dbSNP Id: rs552081005
• gnomAD v2: 6-12290466-G-T
• gnomAD v3: 6-12290233-G-T
• gnomAD v4: 6-12290233-G-T
• MyVariant Identifiers: chr6:g.12290466G>T (hg19) ; chr6:g.12290233G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290233G>T , CM000668.2:g.12290233G>T	GRCh38
NC_000006.11:g.12290466G>T , CM000668.1:g.12290466G>T	GRCh37
NC_000006.10:g.12398452G>T	NCBI36
NG_016196.1:g.4938G>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011514330.1:c.-1-396G>T	XP_011512632.1:n.-1-396G>T
XM_011514331.1:c.-1-396G>T	XP_011512633.1:n.-1-396G>T
XM_011514332.1:c.-1-396G>T	XP_011512634.1:n.-1-396G>T
XM_011514330.2:c.-1-396G>T	XP_011512632.1:n.-1-396G>T
XM_011514331.3:c.-1-396G>T	XP_011512633.1:n.-1-396G>T
XM_011514332.2:c.-1-396G>T	XP_011512634.1:n.-1-396G>T
XM_017010331.1:c.-2+110G>T	XP_016865820.1:n.-2+110G>T