Canonical Allele Identifier: CA3638721
Gene: EDN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 748264
dbSNP Id: rs145546137
gnomAD v2: 6-12294584-A-C
gnomAD v3: 6-12294351-A-C
gnomAD v4: 6-12294351-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12294351A>C , CM000668.2:g.12294351A>C GRCh38
NC_000006.11:g.12294584A>C , CM000668.1:g.12294584A>C GRCh37
NC_000006.10:g.12402570A>C NCBI36
NG_016196.1:g.9056A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379375.6:c.480A>C MANE Select ENSP00000368683.5:p.Leu160Phe
ENST00000379375.5:c.480A>C ENSP00000368683.5:p.Leu160Phe
NM_001168319.1:c.477A>C NP_001161791.1:p.Leu159Phe
NM_001955.4:c.480A>C NP_001946.3:p.Leu160Phe
XM_011514330.1:c.480A>C XP_011512632.1:p.Leu160Phe
XM_011514331.1:c.480A>C XP_011512633.1:p.Leu160Phe
XM_011514332.1:c.477A>C XP_011512634.1:p.Leu159Phe
XM_011514330.2:c.480A>C XP_011512632.1:p.Leu160Phe
XM_011514331.3:c.480A>C XP_011512633.1:p.Leu160Phe
XM_011514332.2:c.477A>C XP_011512634.1:p.Leu159Phe
XM_017010331.1:c.480A>C XP_016865820.1:p.Leu160Phe
NM_001955.5:c.480A>C MANE Select NP_001946.3:p.Leu160Phe
NM_001168319.2:c.477A>C NP_001161791.1:p.Leu159Phe