Canonical Allele Identifier: CA362857381

Gene: EDN1

Linked Data

• dbSNP Id: rs1284339791
• gnomAD v2: 6-12296272-A-G
• gnomAD v4: 6-12296039-A-G
• MyVariant Identifiers: chr6:g.12296272A>G (hg19) ; chr6:g.12296039A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296039A>G , CM000668.2:g.12296039A>G	GRCh38
NC_000006.11:g.12296272A>G , CM000668.1:g.12296272A>G	GRCh37
NC_000006.10:g.12404258A>G	NCBI36
NG_016196.1:g.10744A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.611A>G MANE Select	ENSP00000368683.5:p.Tyr204Cys
ENST00000379375.5:c.611A>G	ENSP00000368683.5:p.Tyr204Cys
NM_001168319.1:c.608A>G	NP_001161791.1:p.Tyr203Cys
NM_001955.4:c.611A>G	NP_001946.3:p.Tyr204Cys
XM_011514330.1:c.611A>G	XP_011512632.1:p.Tyr204Cys
XM_011514331.1:c.611A>G	XP_011512633.1:p.Tyr204Cys
XM_011514332.1:c.608A>G	XP_011512634.1:p.Tyr203Cys
XM_011514330.2:c.611A>G	XP_011512632.1:p.Tyr204Cys
XM_011514331.3:c.611A>G	XP_011512633.1:p.Tyr204Cys
XM_011514332.2:c.608A>G	XP_011512634.1:p.Tyr203Cys
XM_017010331.1:c.611A>G	XP_016865820.1:p.Tyr204Cys
NM_001955.5:c.611A>G MANE Select	NP_001946.3:p.Tyr204Cys
NM_001168319.2:c.608A>G	NP_001161791.1:p.Tyr203Cys