Canonical Allele Identifier: CA362857395
Gene: EDN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2327432
ClinVar RCV Id: RCV002929471

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12296045C>G , CM000668.2:g.12296045C>G GRCh38
NC_000006.11:g.12296278C>G , CM000668.1:g.12296278C>G GRCh37
NC_000006.10:g.12404264C>G NCBI36
NG_016196.1:g.10750C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.617C>G MANE Select ENSP00000368683.5:p.Thr206Ser
ENST00000379375.5:c.617C>G ENSP00000368683.5:p.Thr206Ser
NM_001168319.1:c.614C>G NP_001161791.1:p.Thr205Ser
NM_001955.4:c.617C>G NP_001946.3:p.Thr206Ser
XM_011514330.1:c.617C>G XP_011512632.1:p.Thr206Ser
XM_011514331.1:c.617C>G XP_011512633.1:p.Thr206Ser
XM_011514332.1:c.614C>G XP_011512634.1:p.Thr205Ser
XM_011514330.2:c.617C>G XP_011512632.1:p.Thr206Ser
XM_011514331.3:c.617C>G XP_011512633.1:p.Thr206Ser
XM_011514332.2:c.614C>G XP_011512634.1:p.Thr205Ser
XM_017010331.1:c.617C>G XP_016865820.1:p.Thr206Ser
NM_001955.5:c.617C>G MANE Select NP_001946.3:p.Thr206Ser
NM_001168319.2:c.614C>G NP_001161791.1:p.Thr205Ser