Canonical Allele Identifier: CA126756
Gene: EDN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16652
dbSNP Id: rs5370

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12296022G>T , CM000668.2:g.12296022G>T GRCh38
NC_000006.11:g.12296255G>T , CM000668.1:g.12296255G>T GRCh37
NC_000006.10:g.12404241G>T NCBI36
NG_016196.1:g.10727G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.594G>T MANE Select ENSP00000368683.5:p.Lys198Asn
ENST00000379375.5:c.594G>T ENSP00000368683.5:p.Lys198Asn
NM_001168319.1:c.591G>T NP_001161791.1:p.Lys197Asn
NM_001955.4:c.594G>T NP_001946.3:p.Lys198Asn
XM_011514330.1:c.594G>T XP_011512632.1:p.Lys198Asn
XM_011514331.1:c.594G>T XP_011512633.1:p.Lys198Asn
XM_011514332.1:c.591G>T XP_011512634.1:p.Lys197Asn
XM_011514330.2:c.594G>T XP_011512632.1:p.Lys198Asn
XM_011514331.3:c.594G>T XP_011512633.1:p.Lys198Asn
XM_011514332.2:c.591G>T XP_011512634.1:p.Lys197Asn
XM_017010331.1:c.594G>T XP_016865820.1:p.Lys198Asn
NM_001955.5:c.594G>T MANE Select NP_001946.3:p.Lys198Asn
NM_001168319.2:c.591G>T NP_001161791.1:p.Lys197Asn