Canonical Allele Identifier: CA2677349652

Gene: EDN1

Linked Data

• dbSNP Id: rs2113792262
• gnomAD v4: 6-12290421-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290421T>C , CM000668.2:g.12290421T>C	GRCh38
NC_000006.11:g.12290654T>C , CM000668.1:g.12290654T>C	GRCh37
NC_000006.10:g.12398640T>C	NCBI36
NG_016196.1:g.5126T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-209T>C MANE Select	ENSP00000368683.5:n.-209T>C
ENST00000379375.5:c.-209T>C	ENSP00000368683.5:n.-209T>C
NM_001168319.1:c.-209T>C	NP_001161791.1:n.-209T>C
NM_001955.4:c.-209T>C	NP_001946.3:n.-209T>C
XM_011514330.1:c.-1-208T>C	XP_011512632.1:n.-1-208T>C
XM_011514331.1:c.-1-208T>C	XP_011512633.1:n.-1-208T>C
XM_011514332.1:c.-1-208T>C	XP_011512634.1:n.-1-208T>C
XM_011514330.2:c.-1-208T>C	XP_011512632.1:n.-1-208T>C
XM_011514331.3:c.-1-208T>C	XP_011512633.1:n.-1-208T>C
XM_011514332.2:c.-1-208T>C	XP_011512634.1:n.-1-208T>C
XM_017010331.1:c.-1-208T>C	XP_016865820.1:n.-1-208T>C
NM_001955.5:c.-209T>C MANE Select	NP_001946.3:n.-209T>C
NM_001168319.2:c.-209T>C	NP_001161791.1:n.-209T>C