Canonical Allele Identifier: CA362857248
Gene: EDN1 HGNC NCBI

Linked Data

dbSNP Id: rs1349873879
gnomAD v2: 6-12296209-G-C
gnomAD v4: 6-12295976-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295976G>C , CM000668.2:g.12295976G>C GRCh38
NC_000006.11:g.12296209G>C , CM000668.1:g.12296209G>C GRCh37
NC_000006.10:g.12404195G>C NCBI36
NG_016196.1:g.10681G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.548G>C MANE Select ENSP00000368683.5:p.Arg183Thr
ENST00000379375.5:c.548G>C ENSP00000368683.5:p.Arg183Thr
NM_001168319.1:c.545G>C NP_001161791.1:p.Arg182Thr
NM_001955.4:c.548G>C NP_001946.3:p.Arg183Thr
XM_011514330.1:c.548G>C XP_011512632.1:p.Arg183Thr
XM_011514331.1:c.548G>C XP_011512633.1:p.Arg183Thr
XM_011514332.1:c.545G>C XP_011512634.1:p.Arg182Thr
XM_011514330.2:c.548G>C XP_011512632.1:p.Arg183Thr
XM_011514331.3:c.548G>C XP_011512633.1:p.Arg183Thr
XM_011514332.2:c.545G>C XP_011512634.1:p.Arg182Thr
XM_017010331.1:c.548G>C XP_016865820.1:p.Arg183Thr
NM_001955.5:c.548G>C MANE Select NP_001946.3:p.Arg183Thr
NM_001168319.2:c.545G>C NP_001161791.1:p.Arg182Thr