Canonical Allele Identifier: CA2677349547

Gene: EDN1

Linked Data

• gnomAD v4: 6-12290265-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290265C>T , CM000668.2:g.12290265C>T	GRCh38
NC_000006.11:g.12290498C>T , CM000668.1:g.12290498C>T	GRCh37
NC_000006.10:g.12398484C>T	NCBI36
NG_016196.1:g.4970C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011514330.1:c.-1-364C>T	XP_011512632.1:n.-1-364C>T
XM_011514331.1:c.-1-364C>T	XP_011512633.1:n.-1-364C>T
XM_011514332.1:c.-1-364C>T	XP_011512634.1:n.-1-364C>T
XM_011514330.2:c.-1-364C>T	XP_011512632.1:n.-1-364C>T
XM_011514331.3:c.-1-364C>T	XP_011512633.1:n.-1-364C>T
XM_011514332.2:c.-1-364C>T	XP_011512634.1:n.-1-364C>T
XM_017010331.1:c.-2+142C>T	XP_016865820.1:n.-2+142C>T